Canonical Allele Identifier: CA2671517304
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307692-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307692A>G , CM000666.2:g.99307692A>G GRCh38
NC_000004.11:g.100228849A>G , CM000666.1:g.100228849A>G GRCh37
NC_000004.10:g.100447872A>G NCBI36
NG_011435.1:g.18724T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*148T>C MANE Select ENSP00000306606.8:n.*148T>C
ENST00000305046.12:c.*148T>C ENSP00000306606.8:n.*148T>C
ENST00000506651.5:c.*148T>C ENSP00000425998.2:n.*148T>C
ENST00000515694.4:n.3371T>C
ENST00000625860.2:c.*148T>C ENSP00000486614.1:n.*148T>C
NM_000668.5:c.*148T>C NP_000659.2:n.*148T>C
NM_001286650.1:c.*148T>C NP_001273579.1:n.*148T>C
NM_000668.6:c.*148T>C MANE Select NP_000659.2:n.*148T>C
NM_001286650.2:c.*148T>C NP_001273579.1:n.*148T>C
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