Canonical Allele Identifier: CA373512974
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396796-A-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1048A>C MANE Select ENSP00000366927.3:p.Asn350His
ENST00000377698.3:c.1048A>C ENSP00000366927.3:p.Asn350His
NM_000692.4:c.1048A>C NP_000683.3:p.Asn350His
XM_011517802.1:c.1048A>C XP_011516104.1:p.Asn350His
XM_011517802.2:c.1048A>C XP_011516104.1:p.Asn350His
NM_000692.5:c.1048A>C MANE Select NP_000683.3:p.Asn350His