Canonical Allele Identifier: CA373512559
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396698A>G , CM000671.2:g.38396698A>G GRCh38
NC_000009.11:g.38396695A>G , CM000671.1:g.38396695A>G GRCh37
NC_000009.10:g.38386695A>G NCBI36
NG_012253.1:g.8994A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.950A>G MANE Select ENSP00000366927.3:p.Gln317Arg
ENST00000377698.3:c.950A>G ENSP00000366927.3:p.Gln317Arg
NM_000692.4:c.950A>G NP_000683.3:p.Gln317Arg
XM_011517802.1:c.950A>G XP_011516104.1:p.Gln317Arg
XM_011517802.2:c.950A>G XP_011516104.1:p.Gln317Arg
NM_000692.5:c.950A>G MANE Select NP_000683.3:p.Gln317Arg