Canonical Allele Identifier: CA553106203

Gene: ADH1B

Linked Data

• dbSNP Id: rs1398313575
• gnomAD v2: 4-100228868-A-G
• gnomAD v3: 4-99307711-A-G
• gnomAD v4: 4-99307711-A-G
• MyVariant Identifiers: chr4:g.100228868A>G (hg19) ; chr4:g.99307711A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99307711A>G , CM000666.2:g.99307711A>G	GRCh38
NC_000004.11:g.100228868A>G , CM000666.1:g.100228868A>G	GRCh37
NC_000004.10:g.100447891A>G	NCBI36
NG_011435.1:g.18705T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000305046.13:c.*129T>C MANE Select	ENSP00000306606.8:n.*129T>C
ENST00000305046.12:c.*129T>C	ENSP00000306606.8:n.*129T>C
ENST00000506651.5:c.*129T>C	ENSP00000425998.2:n.*129T>C
ENST00000515694.4:n.3352T>C
ENST00000625860.2:c.*129T>C	ENSP00000486614.1:n.*129T>C
NM_000668.5:c.*129T>C	NP_000659.2:n.*129T>C
NM_001286650.1:c.*129T>C	NP_001273579.1:n.*129T>C
NM_000668.6:c.*129T>C MANE Select	NP_000659.2:n.*129T>C
NM_001286650.2:c.*129T>C	NP_001273579.1:n.*129T>C