Canonical Allele Identifier: CA5063845
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs768474170
gnomAD v2: 9-38395913-G-A
gnomAD v3: 9-38395916-G-A
gnomAD v4: 9-38395916-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38395916G>A , CM000671.2:g.38395916G>A GRCh38
NC_000009.11:g.38395913G>A , CM000671.1:g.38395913G>A GRCh37
NC_000009.10:g.38385913G>A NCBI36
NG_012253.1:g.8212G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377698.4:c.168G>A MANE Select ENSP00000366927.3:p.Thr56=
ENST00000377698.3:c.168G>A ENSP00000366927.3:p.Thr56=
ENST00000635162.1:c.168G>A ENSP00000489053.1:p.Thr56=
NM_000692.4:c.168G>A NP_000683.3:p.Thr56=
XM_011517802.1:c.168G>A XP_011516104.1:p.Thr56=
XM_011517802.2:c.168G>A XP_011516104.1:p.Thr56=
NM_000692.5:c.168G>A MANE Select NP_000683.3:p.Thr56=