Canonical Allele Identifier: CA373512671
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396724-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396724T>C , CM000671.2:g.38396724T>C GRCh38
NC_000009.11:g.38396721T>C , CM000671.1:g.38396721T>C GRCh37
NC_000009.10:g.38386721T>C NCBI36
NG_012253.1:g.9020T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.976T>C MANE Select ENSP00000366927.3:p.Phe326Leu
ENST00000377698.3:c.976T>C ENSP00000366927.3:p.Phe326Leu
NM_000692.4:c.976T>C NP_000683.3:p.Phe326Leu
XM_011517802.1:c.976T>C XP_011516104.1:p.Phe326Leu
XM_011517802.2:c.976T>C XP_011516104.1:p.Phe326Leu
NM_000692.5:c.976T>C MANE Select NP_000683.3:p.Phe326Leu