Canonical Allele Identifier: CA2671520126

Gene: ADH1B

Linked Data

• gnomAD v4: 4-99318039-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99318039C>G , CM000666.2:g.99318039C>G	GRCh38
NC_000004.11:g.100239196C>G , CM000666.1:g.100239196C>G	GRCh37
NC_000004.10:g.100458219C>G	NCBI36
NG_011435.1:g.8377G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305046.13:c.259+7G>C MANE Select	ENSP00000306606.8:n.259+7G>C
ENST00000639454.1:c.259+7G>C	ENSP00000491622.1:n.259+7G>C
ENST00000305046.12:c.259+7G>C	ENSP00000306606.8:n.259+7G>C
ENST00000504498.1:n.320G>C
ENST00000506651.5:c.139+7G>C	ENSP00000425998.2:n.139+7G>C
ENST00000515694.4:n.2354+7G>C
ENST00000625860.2:c.139+7G>C	ENSP00000486614.1:n.139+7G>C
ENST00000632775.1:n.829G>C
NM_000668.5:c.259+7G>C	NP_000659.2:n.259+7G>C
NM_001286650.1:c.139+7G>C	NP_001273579.1:n.139+7G>C
NM_000668.6:c.259+7G>C MANE Select	NP_000659.2:n.259+7G>C
NM_001286650.2:c.139+7G>C	NP_001273579.1:n.139+7G>C