Canonical Allele Identifier: CA2671520120
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99318013-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318013A>G , CM000666.2:g.99318013A>G GRCh38
NC_000004.11:g.100239170A>G , CM000666.1:g.100239170A>G GRCh37
NC_000004.10:g.100458193A>G NCBI36
NG_011435.1:g.8403T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.259+33T>C MANE Select ENSP00000306606.8:n.259+33T>C
ENST00000639454.1:c.259+33T>C ENSP00000491622.1:n.259+33T>C
ENST00000305046.12:c.259+33T>C ENSP00000306606.8:n.259+33T>C
ENST00000504498.1:n.346T>C
ENST00000506651.5:c.139+33T>C ENSP00000425998.2:n.139+33T>C
ENST00000515694.4:n.2354+33T>C
ENST00000625860.2:c.139+33T>C ENSP00000486614.1:n.139+33T>C
ENST00000632775.1:n.855T>C
NM_000668.5:c.259+33T>C NP_000659.2:n.259+33T>C
NM_001286650.1:c.139+33T>C NP_001273579.1:n.139+33T>C
NM_000668.6:c.259+33T>C MANE Select NP_000659.2:n.259+33T>C
NM_001286650.2:c.139+33T>C NP_001273579.1:n.139+33T>C
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