Canonical Allele Identifier: CA2694481084

Gene: ALG13

Linked Data

• ClinVar Variation Id: 2985992
• ClinVar RCV Id: RCV003841599
• gnomAD v4: X-111718288-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.111718288A>G , CM000685.2:g.111718288A>G	GRCh38
NC_000023.10:g.110961516A>G , CM000685.1:g.110961516A>G	GRCh37
NC_000023.9:g.110848172A>G	NCBI36
NG_016238.1:g.42171A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623622.2:c.1250+14A>G	ENSP00000485624.2:n.1250+14A>G
ENST00000699748.1:c.*1219+14A>G	ENSP00000514558.1:n.*1219+14A>G
ENST00000699778.1:c.365+14A>G	ENSP00000514584.1:n.365+14A>G
ENST00000394780.8:c.1250+14A>G MANE Select	ENSP00000378260.3:n.1250+14A>G
ENST00000636363.1:c.*313+14A>G	ENSP00000490681.1:n.*313+14A>G
ENST00000251943.8:c.938+14A>G	ENSP00000251943.4:n.938+14A>G
ENST00000394780.7:c.1250+14A>G	ENSP00000378260.3:n.1250+14A>G
ENST00000436609.5:c.938+14A>G	ENSP00000392990.2:n.938+14A>G
ENST00000470971.5:c.*319-3315A>G	ENSP00000479424.2:n.*319-3315A>G
ENST00000490774.2:n.56+14A>G
ENST00000495283.5:c.*1115+14A>G	ENSP00000427093.3:n.*1115+14A>G
ENST00000610588.4:c.1016+14A>G	ENSP00000479731.1:n.1016+14A>G
ENST00000621367.4:c.938+14A>G	ENSP00000481509.1:n.938+14A>G
ENST00000623144.3:c.*1219+14A>G	ENSP00000485279.1:n.*1219+14A>G
ENST00000623148.3:c.1268+14A>G	ENSP00000485658.1:n.1268+14A>G
ENST00000623622.1:c.212+14A>G	ENSP00000485624.1:n.212+14A>G
ENST00000624161.3:c.*1014+14A>G	ENSP00000485181.1:n.*1014+14A>G
NM_001099922.2:c.1250+14A>G	NP_001093392.1:n.1250+14A>G
NM_001257230.1:c.938+14A>G	NP_001244159.1:n.938+14A>G
NM_001257231.1:c.1016+14A>G	NP_001244160.1:n.1016+14A>G
NM_001257234.1:c.938+14A>G	NP_001244163.1:n.938+14A>G
NM_001257237.1:c.938+14A>G	NP_001244166.1:n.938+14A>G
XM_006724693.2:c.1250+14A>G	XP_006724756.1:n.1250+14A>G
XM_006724695.2:c.1250+14A>G	XP_006724758.1:n.1250+14A>G
XM_006724697.2:c.938+14A>G	XP_006724760.2:n.938+14A>G
XM_006724698.2:c.938+14A>G	XP_006724761.2:n.938+14A>G
XM_011531028.1:c.1250+14A>G	XP_011529330.1:n.1250+14A>G
XM_011531029.1:c.1079+14A>G	XP_011529331.1:n.1079+14A>G
XM_011531030.1:c.1250+14A>G	XP_011529332.1:n.1250+14A>G
XM_011531031.1:c.938+14A>G	XP_011529333.1:n.938+14A>G
XM_011531032.1:c.938+14A>G	XP_011529334.1:n.938+14A>G
XM_011531033.1:c.938+14A>G	XP_011529335.1:n.938+14A>G
XM_011531034.1:c.641+14A>G	XP_011529336.1:n.641+14A>G
XM_011531035.1:c.446+14A>G	XP_011529337.1:n.446+14A>G
XM_011531037.1:c.-162+14A>G	XP_011529339.1:n.-162+14A>G
XR_938409.1:n.1723+14A>G
NM_001324292.1:c.1250+14A>G	NP_001311221.1:n.1250+14A>G
NM_001324293.1:c.938+14A>G	NP_001311222.1:n.938+14A>G
NR_148693.1:n.1305+14A>G
XM_006724693.3:c.1250+14A>G	XP_006724756.1:n.1250+14A>G
XM_006724697.3:c.938+14A>G	XP_006724760.2:n.938+14A>G
XM_006724698.3:c.938+14A>G	XP_006724761.2:n.938+14A>G
XM_011531028.2:c.1250+14A>G	XP_011529330.1:n.1250+14A>G
XM_011531030.2:c.1250+14A>G	XP_011529332.1:n.1250+14A>G
XM_011531033.3:c.938+14A>G	XP_011529335.1:n.938+14A>G
XM_011531034.2:c.641+14A>G	XP_011529336.1:n.641+14A>G
XM_017029846.1:c.1250+14A>G	XP_016885335.1:n.1250+14A>G
XM_017029847.1:c.1250+14A>G	XP_016885336.1:n.1250+14A>G
XM_017029848.1:c.1250+14A>G	XP_016885337.1:n.1250+14A>G
XM_017029849.1:c.1250+14A>G	XP_016885338.1:n.1250+14A>G
XM_017029850.2:c.1250+14A>G	XP_016885339.1:n.1250+14A>G
XM_017029851.1:c.446+14A>G	XP_016885340.1:n.446+14A>G
XM_017029852.1:c.281+14A>G	XP_016885341.1:n.281+14A>G
XM_017029853.1:c.-97+14A>G	XP_016885342.1:n.-97+14A>G
XM_017029855.1:c.-97+14A>G	XP_016885344.1:n.-97+14A>G
XM_024452449.1:c.1250+14A>G	XP_024308217.1:n.1250+14A>G
NM_001099922.3:c.1250+14A>G MANE Select	NP_001093392.1:n.1250+14A>G
NM_001257230.2:c.938+14A>G	NP_001244159.1:n.938+14A>G
NM_001324292.2:c.1250+14A>G	NP_001311221.1:n.1250+14A>G
NR_148693.2:n.1253+14A>G
NM_001257231.2:c.1016+14A>G	NP_001244160.1:n.1016+14A>G
NM_001257234.2:c.938+14A>G	NP_001244163.1:n.938+14A>G
NM_001257237.2:c.938+14A>G	NP_001244166.1:n.938+14A>G