Canonical Allele Identifier: CA192998815
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs773632228
gnomAD v2: 9-38396929-G-A
gnomAD v3: 9-38396932-G-A
gnomAD v4: 9-38396932-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396932G>A , CM000671.2:g.38396932G>A GRCh38
NC_000009.11:g.38396929G>A , CM000671.1:g.38396929G>A GRCh37
NC_000009.10:g.38386929G>A NCBI36
NG_012253.1:g.9228G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1184G>A MANE Select ENSP00000366927.3:p.Gly395Asp
ENST00000377698.3:c.1184G>A ENSP00000366927.3:p.Gly395Asp
NM_000692.4:c.1184G>A NP_000683.3:p.Gly395Asp
XM_011517802.1:c.1184G>A XP_011516104.1:p.Gly395Asp
XM_011517802.2:c.1184G>A XP_011516104.1:p.Gly395Asp
NM_000692.5:c.1184G>A MANE Select NP_000683.3:p.Gly395Asp