Canonical Allele Identifier: CA373511331
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1355316520
gnomAD v2: 9-38396430-G-A
gnomAD v4: 9-38396433-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396433G>A , CM000671.2:g.38396433G>A GRCh38
NC_000009.11:g.38396430G>A , CM000671.1:g.38396430G>A GRCh37
NC_000009.10:g.38386430G>A NCBI36
NG_012253.1:g.8729G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.685G>A MANE Select ENSP00000366927.3:p.Gly229Ser
ENST00000377698.3:c.685G>A ENSP00000366927.3:p.Gly229Ser
NM_000692.4:c.685G>A NP_000683.3:p.Gly229Ser
XM_011517802.1:c.685G>A XP_011516104.1:p.Gly229Ser
XM_011517802.2:c.685G>A XP_011516104.1:p.Gly229Ser
NM_000692.5:c.685G>A MANE Select NP_000683.3:p.Gly229Ser