Canonical Allele Identifier: CA192998307
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs147682603
gnomAD v2: 9-38396654-C-T
gnomAD v3: 9-38396657-C-T
gnomAD v4: 9-38396657-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396657C>T , CM000671.2:g.38396657C>T GRCh38
NC_000009.11:g.38396654C>T , CM000671.1:g.38396654C>T GRCh37
NC_000009.10:g.38386654C>T NCBI36
NG_012253.1:g.8953C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.909C>T MANE Select ENSP00000366927.3:p.Ala303=
ENST00000377698.3:c.909C>T ENSP00000366927.3:p.Ala303=
NM_000692.4:c.909C>T NP_000683.3:p.Ala303=
XM_011517802.1:c.909C>T XP_011516104.1:p.Ala303=
XM_011517802.2:c.909C>T XP_011516104.1:p.Ala303=
NM_000692.5:c.909C>T MANE Select NP_000683.3:p.Ala303=