Canonical Allele Identifier: CA373512972
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1273866354
gnomAD v2: 9-38396793-A-G
gnomAD v4: 9-38396796-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396796A>G , CM000671.2:g.38396796A>G GRCh38
NC_000009.11:g.38396793A>G , CM000671.1:g.38396793A>G GRCh37
NC_000009.10:g.38386793A>G NCBI36
NG_012253.1:g.9092A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1048A>G MANE Select ENSP00000366927.3:p.Asn350Asp
ENST00000377698.3:c.1048A>G ENSP00000366927.3:p.Asn350Asp
NM_000692.4:c.1048A>G NP_000683.3:p.Asn350Asp
XM_011517802.1:c.1048A>G XP_011516104.1:p.Asn350Asp
XM_011517802.2:c.1048A>G XP_011516104.1:p.Asn350Asp
NM_000692.5:c.1048A>G MANE Select NP_000683.3:p.Asn350Asp