Canonical Allele Identifier: CA2671517367
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307911-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307911C>A , CM000666.2:g.99307911C>A GRCh38
NC_000004.11:g.100229068C>A , CM000666.1:g.100229068C>A GRCh37
NC_000004.10:g.100448091C>A NCBI36
NG_011435.1:g.18505G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1104-47G>T MANE Select ENSP00000306606.8:n.1104-47G>T
ENST00000639454.1:c.1104-47G>T ENSP00000491622.1:n.1104-47G>T
ENST00000305046.12:c.1104-47G>T ENSP00000306606.8:n.1104-47G>T
ENST00000506651.5:c.984-47G>T ENSP00000425998.2:n.984-47G>T
ENST00000515694.4:n.3199-47G>T
ENST00000625860.2:c.984-47G>T ENSP00000486614.1:n.984-47G>T
NM_000668.5:c.1104-47G>T NP_000659.2:n.1104-47G>T
NM_001286650.1:c.984-47G>T NP_001273579.1:n.984-47G>T
NM_000668.6:c.1104-47G>T MANE Select NP_000659.2:n.1104-47G>T
NM_001286650.2:c.984-47G>T NP_001273579.1:n.984-47G>T
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