Canonical Allele Identifier: CA2671517310
Gene: ADH1B HGNC NCBI

Linked Data

gnomAD v4: 4-99307708-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307708G>T , CM000666.2:g.99307708G>T GRCh38
NC_000004.11:g.100228865G>T , CM000666.1:g.100228865G>T GRCh37
NC_000004.10:g.100447888G>T NCBI36
NG_011435.1:g.18708C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.*132C>A MANE Select ENSP00000306606.8:n.*132C>A
ENST00000305046.12:c.*132C>A ENSP00000306606.8:n.*132C>A
ENST00000506651.5:c.*132C>A ENSP00000425998.2:n.*132C>A
ENST00000515694.4:n.3355C>A
ENST00000625860.2:c.*132C>A ENSP00000486614.1:n.*132C>A
NM_000668.5:c.*132C>A NP_000659.2:n.*132C>A
NM_001286650.1:c.*132C>A NP_001273579.1:n.*132C>A
NM_000668.6:c.*132C>A MANE Select NP_000659.2:n.*132C>A
NM_001286650.2:c.*132C>A NP_001273579.1:n.*132C>A