Canonical Allele Identifier: CA378842625
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538894T>A , CM000672.2:g.133538894T>A GRCh38
NC_000010.10:g.135352398T>A , CM000672.1:g.135352398T>A GRCh37
NC_000010.9:g.135202388T>A NCBI36
NG_008383.1:g.16532T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1412T>A MANE Select ENSP00000252945.3:p.Leu471His
ENST00000252945.7:c.1412T>A ENSP00000252945.3:p.Leu471His
ENST00000368520.1:n.1358+1002T>A
ENST00000463117.6:c.1412T>A ENSP00000440689.1:p.Leu471His
ENST00000469258.1:n.508T>A
NM_000773.3:c.1412T>A NP_000764.1:p.Leu471His
NM_000773.4:c.1412T>A MANE Select NP_000764.1:p.Leu471His