Canonical Allele Identifier: CA378842689
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538906A>T , CM000672.2:g.133538906A>T GRCh38
NC_000010.10:g.135352410A>T , CM000672.1:g.135352410A>T GRCh37
NC_000010.9:g.135202400A>T NCBI36
NG_008383.1:g.16544A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1424A>T MANE Select ENSP00000252945.3:p.His475Leu
ENST00000252945.7:c.1424A>T ENSP00000252945.3:p.His475Leu
ENST00000368520.1:n.1358+1014A>T
ENST00000463117.6:c.1424A>T ENSP00000440689.1:p.His475Leu
ENST00000469258.1:n.520A>T
NM_000773.3:c.1424A>T NP_000764.1:p.His475Leu
NM_000773.4:c.1424A>T MANE Select NP_000764.1:p.His475Leu