Canonical Allele Identifier: CA553101609
Gene: ADH1B HGNC NCBI

Linked Data

dbSNP Id: rs1472381975
gnomAD v3: 4-99321888-G-T
gnomAD v4: 4-99321888-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99321888G>T , CM000666.2:g.99321888G>T GRCh38
NC_000004.11:g.100243045G>T , CM000666.1:g.100243045G>T GRCh37
NC_000004.10:g.100462068G>T NCBI36
NG_011435.1:g.4528C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000639454.1:c.19-3002C>A ENSP00000491622.1:n.19-3002C>A