Canonical Allele Identifier: CA2671517289
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307667-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307667T>G , CM000666.2:g.99307667T>G GRCh38
NC_000004.11:g.100228824T>G , CM000666.1:g.100228824T>G GRCh37
NC_000004.10:g.100447847T>G NCBI36
NG_011435.1:g.18749A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000305046.13:c.*173A>C MANE Select ENSP00000306606.8:n.*173A>C
ENST00000305046.12:c.*173A>C ENSP00000306606.8:n.*173A>C
ENST00000506651.5:c.*173A>C ENSP00000425998.2:n.*173A>C
ENST00000515694.4:n.3396A>C
ENST00000625860.2:c.*173A>C ENSP00000486614.1:n.*173A>C
NM_000668.5:c.*173A>C NP_000659.2:n.*173A>C
NM_001286650.1:c.*173A>C NP_001273579.1:n.*173A>C
NM_000668.6:c.*173A>C MANE Select NP_000659.2:n.*173A>C
NM_001286650.2:c.*173A>C NP_001273579.1:n.*173A>C
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