Canonical Allele Identifier: CA5064052
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs771540473
gnomAD v2: 9-38396851-G-A
gnomAD v3: 9-38396854-G-A
gnomAD v4: 9-38396854-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396854G>A , CM000671.2:g.38396854G>A GRCh38
NC_000009.11:g.38396851G>A , CM000671.1:g.38396851G>A GRCh37
NC_000009.10:g.38386851G>A NCBI36
NG_012253.1:g.9150G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1106G>A MANE Select ENSP00000366927.3:p.Arg369Gln
ENST00000377698.3:c.1106G>A ENSP00000366927.3:p.Arg369Gln
NM_000692.4:c.1106G>A NP_000683.3:p.Arg369Gln
XM_011517802.1:c.1106G>A XP_011516104.1:p.Arg369Gln
XM_011517802.2:c.1106G>A XP_011516104.1:p.Arg369Gln
NM_000692.5:c.1106G>A MANE Select NP_000683.3:p.Arg369Gln