Canonical Allele Identifier: CA2578151262
Gene: ADH1B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99318034T>C , CM000666.2:g.99318034T>C GRCh38
NC_000004.11:g.100239191T>C , CM000666.1:g.100239191T>C GRCh37
NC_000004.10:g.100458214T>C NCBI36
NG_011435.1:g.8382A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.259+12A>G MANE Select ENSP00000306606.8:n.259+12A>G
ENST00000639454.1:c.259+12A>G ENSP00000491622.1:n.259+12A>G
ENST00000305046.12:c.259+12A>G ENSP00000306606.8:n.259+12A>G
ENST00000504498.1:n.325A>G
ENST00000506651.5:c.139+12A>G ENSP00000425998.2:n.139+12A>G
ENST00000515694.4:n.2354+12A>G
ENST00000625860.2:c.139+12A>G ENSP00000486614.1:n.139+12A>G
ENST00000632775.1:n.834A>G
NM_000668.5:c.259+12A>G NP_000659.2:n.259+12A>G
NM_001286650.1:c.139+12A>G NP_001273579.1:n.139+12A>G
NM_000668.6:c.259+12A>G MANE Select NP_000659.2:n.259+12A>G
NM_001286650.2:c.139+12A>G NP_001273579.1:n.139+12A>G
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