Canonical Allele Identifier: CA373513642
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396940-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396940A>C , CM000671.2:g.38396940A>C GRCh38
NC_000009.11:g.38396937A>C , CM000671.1:g.38396937A>C GRCh37
NC_000009.10:g.38386937A>C NCBI36
NG_012253.1:g.9236A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1192A>C MANE Select ENSP00000366927.3:p.Ile398Leu
ENST00000377698.3:c.1192A>C ENSP00000366927.3:p.Ile398Leu
NM_000692.4:c.1192A>C NP_000683.3:p.Ile398Leu
XM_011517802.1:c.1192A>C XP_011516104.1:p.Ile398Leu
XM_011517802.2:c.1192A>C XP_011516104.1:p.Ile398Leu
NM_000692.5:c.1192A>C MANE Select NP_000683.3:p.Ile398Leu