Canonical Allele Identifier: CA373512930
Gene: ALDH1B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396785G>T , CM000671.2:g.38396785G>T GRCh38
NC_000009.11:g.38396782G>T , CM000671.1:g.38396782G>T GRCh37
NC_000009.10:g.38386782G>T NCBI36
NG_012253.1:g.9081G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1037G>T MANE Select ENSP00000366927.3:p.Arg346Met
ENST00000377698.3:c.1037G>T ENSP00000366927.3:p.Arg346Met
NM_000692.4:c.1037G>T NP_000683.3:p.Arg346Met
XM_011517802.1:c.1037G>T XP_011516104.1:p.Arg346Met
XM_011517802.2:c.1037G>T XP_011516104.1:p.Arg346Met
NM_000692.5:c.1037G>T MANE Select NP_000683.3:p.Arg346Met