Canonical Allele Identifier: CA2671517345
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307786-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307786C>G , CM000666.2:g.99307786C>G GRCh38
NC_000004.11:g.100228943C>G , CM000666.1:g.100228943C>G GRCh37
NC_000004.10:g.100447966C>G NCBI36
NG_011435.1:g.18630G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*54G>C MANE Select ENSP00000306606.8:n.*54G>C
ENST00000305046.12:c.*54G>C ENSP00000306606.8:n.*54G>C
ENST00000506651.5:c.*54G>C ENSP00000425998.2:n.*54G>C
ENST00000515694.4:n.3277G>C
ENST00000625860.2:c.*54G>C ENSP00000486614.1:n.*54G>C
NM_000668.5:c.*54G>C NP_000659.2:n.*54G>C
NM_001286650.1:c.*54G>C NP_001273579.1:n.*54G>C
NM_000668.6:c.*54G>C MANE Select NP_000659.2:n.*54G>C
NM_001286650.2:c.*54G>C NP_001273579.1:n.*54G>C
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