Canonical Allele Identifier: CA414248620

Gene: ALG13

Linked Data

• ClinVar Variation Id: 2438993
• ClinVar RCV Id: RCV003141328
• dbSNP Id: rs1934570209
• MyVariant Identifiers: chrX:g.110928234C>T (hg19) ; chrX:g.111685006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.111685006C>T , CM000685.2:g.111685006C>T	GRCh38
NC_000023.10:g.110928234C>T , CM000685.1:g.110928234C>T	GRCh37
NC_000023.9:g.110814890C>T	NCBI36
NG_016238.1:g.8889C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000623622.2:c.286C>T	ENSP00000485624.2:p.Leu96Phe
ENST00000699748.1:c.*255C>T	ENSP00000514558.1:n.*255C>T
ENST00000394780.8:c.286C>T MANE Select	ENSP00000378260.3:p.Leu96Phe
ENST00000636363.1:c.286C>T	ENSP00000490681.1:p.Leu96Phe
ENST00000251943.8:c.-27C>T	ENSP00000251943.4:n.-27C>T
ENST00000371979.7:c.286C>T	ENSP00000361047.3:p.Leu96Phe
ENST00000394780.7:c.286C>T	ENSP00000378260.3:p.Leu96Phe
ENST00000436609.5:c.-27C>T	ENSP00000392990.2:n.-27C>T
ENST00000468657.5:c.*255C>T	ENSP00000480638.2:n.*255C>T
ENST00000470971.5:c.*50C>T	ENSP00000479424.2:n.*50C>T
ENST00000471924.5:c.363C>T	ENSP00000484523.2:n.363C>T
ENST00000473389.5:c.286C>T	ENSP00000480711.1:p.Leu96Phe
ENST00000482374.5:c.*151C>T	ENSP00000479632.1:n.*151C>T
ENST00000482742.5:c.-27C>T	ENSP00000477513.1:n.-27C>T
ENST00000486353.5:c.286C>T	ENSP00000426892.2:p.Leu96Phe
ENST00000487141.5:c.322C>T	ENSP00000478130.1:p.Leu108Phe
ENST00000489033.5:c.*196C>T	ENSP00000482257.2:n.*196C>T
ENST00000492038.5:c.*50C>T	ENSP00000479483.1:n.*50C>T
ENST00000495283.5:c.*151C>T	ENSP00000427093.3:n.*151C>T
ENST00000610588.4:c.52C>T	ENSP00000479731.1:p.Leu18Phe
ENST00000621367.4:c.-27C>T	ENSP00000481509.1:n.-27C>T
ENST00000622986.3:c.286C>T	ENSP00000485067.1:p.Leu96Phe
ENST00000622997.3:c.*255C>T	ENSP00000485420.1:n.*255C>T
ENST00000623144.3:c.*255C>T	ENSP00000485279.1:n.*255C>T
ENST00000623148.3:c.304C>T	ENSP00000485658.1:n.304C>T
ENST00000623189.1:c.-27C>T	ENSP00000485392.1:n.-27C>T
ENST00000623255.1:c.277C>T	ENSP00000485333.1:p.Leu93Phe
ENST00000624161.3:c.*50C>T	ENSP00000485181.1:n.*50C>T
ENST00000624881.3:c.227C>T	ENSP00000485093.1:p.Thr76Ile
NM_001039210.3:c.227C>T	NP_001034299.3:p.Thr76Ile
NM_001099922.2:c.286C>T	NP_001093392.1:p.Leu96Phe
NM_001168385.1:c.286C>T	NP_001161857.1:p.Leu96Phe
NM_001257230.1:c.-27C>T	NP_001244159.1:n.-27C>T
NM_001257231.1:c.52C>T	NP_001244160.1:p.Leu18Phe
NM_001257234.1:c.-27C>T	NP_001244163.1:n.-27C>T
NM_001257235.1:c.-27C>T	NP_001244164.1:n.-27C>T
NM_001257237.1:c.-27C>T	NP_001244166.1:n.-27C>T
NM_001257239.1:c.-27C>T	NP_001244168.1:n.-27C>T
NM_001257240.1:c.-27C>T	NP_001244169.1:n.-27C>T
NM_001257241.1:c.52C>T	NP_001244170.1:p.Leu18Phe
NM_018466.4:c.286C>T	NP_060936.1:p.Leu96Phe
NR_033125.1:n.283C>T
XM_005262191.3:c.-27C>T	XP_005262248.1:n.-27C>T
XM_006724693.2:c.286C>T	XP_006724756.1:p.Leu96Phe
XM_006724695.2:c.286C>T	XP_006724758.1:p.Leu96Phe
XM_006724697.2:c.-27C>T	XP_006724760.2:n.-27C>T
XM_006724698.2:c.-27C>T	XP_006724761.2:n.-27C>T
XM_011531028.1:c.286C>T	XP_011529330.1:p.Leu96Phe
XM_011531029.1:c.286C>T	XP_011529331.1:p.Leu96Phe
XM_011531030.1:c.286C>T	XP_011529332.1:p.Leu96Phe
XM_011531031.1:c.-27C>T	XP_011529333.1:n.-27C>T
XM_011531032.1:c.-27C>T	XP_011529334.1:n.-27C>T
XM_011531033.1:c.-27C>T	XP_011529335.1:n.-27C>T
XR_938409.1:n.759C>T
NM_001039210.4:c.227C>T	NP_001034299.3:p.Thr76Ile
NM_001168385.2:c.286C>T	NP_001161857.1:p.Leu96Phe
NM_001257235.2:c.-27C>T	NP_001244164.1:n.-27C>T
NM_001257239.2:c.-27C>T	NP_001244168.1:n.-27C>T
NM_001257240.2:c.-27C>T	NP_001244169.1:n.-27C>T
NM_001257241.2:c.52C>T	NP_001244170.1:p.Leu18Phe
NM_001324290.1:c.292C>T	NP_001311219.1:p.Leu98Phe
NM_001324291.1:c.-27C>T	NP_001311220.1:n.-27C>T
NM_001324292.1:c.286C>T	NP_001311221.1:p.Leu96Phe
NM_001324293.1:c.-27C>T	NP_001311222.1:n.-27C>T
NM_001324294.1:c.-27C>T	NP_001311223.1:n.-27C>T
NM_018466.5:c.286C>T	NP_060936.1:p.Leu96Phe
NR_033125.2:n.283C>T
NR_136735.1:n.356C>T
NR_148693.1:n.387C>T
XM_006724693.3:c.286C>T	XP_006724756.1:p.Leu96Phe
XM_006724697.3:c.-27C>T	XP_006724760.2:n.-27C>T
XM_006724698.3:c.-27C>T	XP_006724761.2:n.-27C>T
XM_011531028.2:c.286C>T	XP_011529330.1:p.Leu96Phe
XM_011531030.2:c.286C>T	XP_011529332.1:p.Leu96Phe
XM_011531033.3:c.-27C>T	XP_011529335.1:n.-27C>T
XM_017029846.1:c.286C>T	XP_016885335.1:p.Leu96Phe
XM_017029847.1:c.286C>T	XP_016885336.1:p.Leu96Phe
XM_017029848.1:c.286C>T	XP_016885337.1:p.Leu96Phe
XM_017029849.1:c.286C>T	XP_016885338.1:p.Leu96Phe
XM_017029850.2:c.286C>T	XP_016885339.1:p.Leu96Phe
XM_017029851.1:c.-425C>T	XP_016885340.1:n.-425C>T
XM_024452449.1:c.286C>T	XP_024308217.1:p.Leu96Phe
XR_001755726.1:n.326C>T
XR_001755727.1:n.326C>T
XR_001755728.1:n.326C>T
NM_001039210.5:c.227C>T	NP_001034299.3:p.Thr76Ile
NM_001099922.3:c.286C>T MANE Select	NP_001093392.1:p.Leu96Phe
NM_001168385.3:c.286C>T	NP_001161857.1:p.Leu96Phe
NM_001257230.2:c.-27C>T	NP_001244159.1:n.-27C>T
NM_001257235.3:c.-27C>T	NP_001244164.1:n.-27C>T
NM_001257239.3:c.-27C>T	NP_001244168.1:n.-27C>T
NM_001257240.3:c.-27C>T	NP_001244169.1:n.-27C>T
NM_001257241.3:c.52C>T	NP_001244170.1:p.Leu18Phe
NM_001324290.2:c.292C>T	NP_001311219.1:p.Leu98Phe
NM_001324291.2:c.-27C>T	NP_001311220.1:n.-27C>T
NM_001324292.2:c.286C>T	NP_001311221.1:p.Leu96Phe
NM_001324294.2:c.-27C>T	NP_001311223.1:n.-27C>T
NM_018466.6:c.286C>T	NP_060936.1:p.Leu96Phe
NR_033125.3:n.231C>T
NR_136735.2:n.356C>T
NR_148693.2:n.335C>T
NM_001257231.2:c.52C>T	NP_001244160.1:p.Leu18Phe
NM_001257234.2:c.-27C>T	NP_001244163.1:n.-27C>T
NM_001257237.2:c.-27C>T	NP_001244166.1:n.-27C>T