Canonical Allele Identifier: CA357495911
Community Standard Title: NM_000668.6(ADH1B):c.1108C>G (p.Arg370Gly)
Gene: ADH1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307860G>C , CM000666.2:g.99307860G>C GRCh38
NC_000004.11:g.100229017G>C , CM000666.1:g.100229017G>C GRCh37
NC_000004.10:g.100448040G>C NCBI36
NG_011435.1:g.18556C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000668.6:c.1108C>G MANE Select NP_000659.2:p.Arg370Gly
ENST00000305046.13:c.1108C>G MANE Select ENSP00000306606.8:p.Arg370Gly
NM_000668.5:c.1108C>G NP_000659.2:p.Arg370Gly
NM_001286650.1:c.988C>G NP_001273579.1:p.Arg330Gly
NM_001286650.2:c.988C>G NP_001273579.1:p.Arg330Gly
ENST00000305046.12:c.1108C>G ENSP00000306606.8:p.Arg370Gly
ENST00000506651.5:c.988C>G ENSP00000425998.2:p.Arg330Gly
ENST00000515694.4:n.3203C>G
ENST00000625860.2:c.988C>G ENSP00000486614.1:p.Arg330Gly
ENST00000639454.1:c.1108C>G ENSP00000491622.1:p.Arg370Gly