Canonical Allele Identifier: CA10493543

Gene: ALG13

Linked Data

• ClinVar Variation Id: 385135
• ClinVar RCV Id: RCV000428716 ; RCV003651825 ; RCV003430994
• dbSNP Id: rs751015058
• ExAC: X:110951357 T / C
• gnomAD v2: X-110951357-T-C
• gnomAD v3: X-111708129-T-C
• gnomAD v4: X-111708129-T-C
• MyVariant Identifiers: chrX:g.110951357T>C (hg19) ; chrX:g.111708129T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.111708129T>C , CM000685.2:g.111708129T>C	GRCh38
NC_000023.10:g.110951357T>C , CM000685.1:g.110951357T>C	GRCh37
NC_000023.9:g.110838013T>C	NCBI36
NG_016238.1:g.32012T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623622.2:c.486T>C	ENSP00000485624.2:p.Phe162=
ENST00000699748.1:c.*455T>C	ENSP00000514558.1:n.*455T>C
ENST00000394780.8:c.486T>C MANE Select	ENSP00000378260.3:p.Phe162=
ENST00000636363.1:c.486T>C	ENSP00000490681.1:p.Phe162=
ENST00000251943.8:c.174T>C	ENSP00000251943.4:p.Phe58=
ENST00000394780.7:c.486T>C	ENSP00000378260.3:p.Phe162=
ENST00000436609.5:c.174T>C	ENSP00000392990.2:p.Phe58=
ENST00000470704.1:n.472-836T>C
ENST00000470971.5:c.*148-3546T>C	ENSP00000479424.2:n.*148-3546T>C
ENST00000471924.5:c.674T>C	ENSP00000484523.2:n.674T>C
ENST00000486353.5:c.*117T>C	ENSP00000426892.2:n.*117T>C
ENST00000487141.5:c.*15-3546T>C	ENSP00000478130.1:n.*15-3546T>C
ENST00000495283.5:c.*351T>C	ENSP00000427093.3:n.*351T>C
ENST00000610588.4:c.252T>C	ENSP00000479731.1:p.Phe84=
ENST00000621367.4:c.174T>C	ENSP00000481509.1:p.Phe58=
ENST00000622997.3:c.*353-5096T>C	ENSP00000485420.1:n.*353-5096T>C
ENST00000623144.3:c.*455T>C	ENSP00000485279.1:n.*455T>C
ENST00000623148.3:c.504T>C	ENSP00000485658.1:n.504T>C
ENST00000624161.3:c.*250T>C	ENSP00000485181.1:n.*250T>C
ENST00000624881.3:c.427T>C	ENSP00000485093.1:p.Trp143Arg
NM_001099922.2:c.486T>C	NP_001093392.1:p.Phe162=
NM_001257230.1:c.174T>C	NP_001244159.1:p.Phe58=
NM_001257231.1:c.252T>C	NP_001244160.1:p.Phe84=
NM_001257234.1:c.174T>C	NP_001244163.1:p.Phe58=
NM_001257237.1:c.174T>C	NP_001244166.1:p.Phe58=
XM_006724693.2:c.486T>C	XP_006724756.1:p.Phe162=
XM_006724695.2:c.486T>C	XP_006724758.1:p.Phe162=
XM_006724697.2:c.174T>C	XP_006724760.2:p.Phe58=
XM_006724698.2:c.174T>C	XP_006724761.2:p.Phe58=
XM_011531028.1:c.486T>C	XP_011529330.1:p.Phe162=
XM_011531029.1:c.486T>C	XP_011529331.1:p.Phe162=
XM_011531030.1:c.486T>C	XP_011529332.1:p.Phe162=
XM_011531031.1:c.174T>C	XP_011529333.1:p.Phe58=
XM_011531032.1:c.174T>C	XP_011529334.1:p.Phe58=
XM_011531033.1:c.174T>C	XP_011529335.1:p.Phe58=
XM_011531034.1:c.-124T>C	XP_011529336.1:n.-124T>C
XM_011531035.1:c.-54-836T>C	XP_011529337.1:n.-54-836T>C
XR_938409.1:n.959T>C
NM_001324292.1:c.486T>C	NP_001311221.1:p.Phe162=
NM_001324293.1:c.174T>C	NP_001311222.1:p.Phe58=
NR_148693.1:n.587T>C
XM_006724693.3:c.486T>C	XP_006724756.1:p.Phe162=
XM_006724697.3:c.174T>C	XP_006724760.2:p.Phe58=
XM_006724698.3:c.174T>C	XP_006724761.2:p.Phe58=
XM_011531028.2:c.486T>C	XP_011529330.1:p.Phe162=
XM_011531030.2:c.486T>C	XP_011529332.1:p.Phe162=
XM_011531033.3:c.174T>C	XP_011529335.1:p.Phe58=
XM_011531034.2:c.-124T>C	XP_011529336.1:n.-124T>C
XM_017029846.1:c.486T>C	XP_016885335.1:p.Phe162=
XM_017029847.1:c.486T>C	XP_016885336.1:p.Phe162=
XM_017029848.1:c.486T>C	XP_016885337.1:p.Phe162=
XM_017029849.1:c.486T>C	XP_016885338.1:p.Phe162=
XM_017029850.2:c.486T>C	XP_016885339.1:p.Phe162=
XM_017029851.1:c.-54-836T>C	XP_016885340.1:n.-54-836T>C
XM_024452449.1:c.486T>C	XP_024308217.1:p.Phe162=
XR_001755726.1:n.697-836T>C
XR_001755727.1:n.697-3546T>C
XR_001755728.1:n.697-9717T>C
NM_001099922.3:c.486T>C MANE Select	NP_001093392.1:p.Phe162=
NM_001257230.2:c.174T>C	NP_001244159.1:p.Phe58=
NM_001324292.2:c.486T>C	NP_001311221.1:p.Phe162=
NR_148693.2:n.535T>C
NM_001257231.2:c.252T>C	NP_001244160.1:p.Phe84=
NM_001257234.2:c.174T>C	NP_001244163.1:p.Phe58=
NM_001257237.2:c.174T>C	NP_001244166.1:p.Phe58=