Canonical Allele Identifier: CA192998886
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs564057889
gnomAD v2: 9-38396968-A-G
gnomAD v3: 9-38396971-A-G
gnomAD v4: 9-38396971-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396971A>G , CM000671.2:g.38396971A>G GRCh38
NC_000009.11:g.38396968A>G , CM000671.1:g.38396968A>G GRCh37
NC_000009.10:g.38386968A>G NCBI36
NG_012253.1:g.9267A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1223A>G MANE Select ENSP00000366927.3:p.Asp408Gly
ENST00000377698.3:c.1223A>G ENSP00000366927.3:p.Asp408Gly
NM_000692.4:c.1223A>G NP_000683.3:p.Asp408Gly
XM_011517802.1:c.1223A>G XP_011516104.1:p.Asp408Gly
XM_011517802.2:c.1223A>G XP_011516104.1:p.Asp408Gly
NM_000692.5:c.1223A>G MANE Select NP_000683.3:p.Asp408Gly