Canonical Allele Identifier: CA357495866
Gene: ADH1B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.100229002A>G (hg19) chr4:g.99307845A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99307845A>G , CM000666.2:g.99307845A>G GRCh38
NC_000004.11:g.100229002A>G , CM000666.1:g.100229002A>G GRCh37
NC_000004.10:g.100448025A>G NCBI36
NG_011435.1:g.18571T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000305046.13:c.1123T>C MANE Select ENSP00000306606.8:p.Phe375Leu
ENST00000639454.1:c.1123T>C ENSP00000491622.1:p.Phe375Leu
ENST00000305046.12:c.1123T>C ENSP00000306606.8:p.Phe375Leu
ENST00000506651.5:c.1003T>C ENSP00000425998.2:p.Phe335Leu
ENST00000515694.4:n.3218T>C
ENST00000625860.2:c.1003T>C ENSP00000486614.1:p.Phe335Leu
NM_000668.5:c.1123T>C NP_000659.2:p.Phe375Leu
NM_001286650.1:c.1003T>C NP_001273579.1:p.Phe335Leu
NM_000668.6:c.1123T>C MANE Select NP_000659.2:p.Phe375Leu
NM_001286650.2:c.1003T>C NP_001273579.1:p.Phe335Leu
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