Canonical Allele Identifier: CA373513925
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396991-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396991G>C , CM000671.2:g.38396991G>C GRCh38
NC_000009.11:g.38396988G>C , CM000671.1:g.38396988G>C GRCh37
NC_000009.10:g.38386988G>C NCBI36
NG_012253.1:g.9287G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1243G>C MANE Select ENSP00000366927.3:p.Glu415Gln
ENST00000377698.3:c.1243G>C ENSP00000366927.3:p.Glu415Gln
NM_000692.4:c.1243G>C NP_000683.3:p.Glu415Gln
XM_011517802.1:c.1243G>C XP_011516104.1:p.Glu415Gln
XM_011517802.2:c.1243G>C XP_011516104.1:p.Glu415Gln
NM_000692.5:c.1243G>C MANE Select NP_000683.3:p.Glu415Gln