Canonical Allele Identifier: CA5767500

Gene: CYP2E1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133528530G>A , CM000672.2:g.133528530G>A	GRCh38
NC_000010.10:g.135342034G>A , CM000672.1:g.135342034G>A	GRCh37
NC_000010.9:g.135192024G>A	NCBI36
NG_008383.1:g.6168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252945.8:c.227G>A MANE Select	ENSP00000252945.3:p.Arg76His
ENST00000252945.7:c.227G>A	ENSP00000252945.3:p.Arg76His
ENST00000418356.1:c.76+958G>A	ENSP00000397299.1:n.76+958G>A
ENST00000421586.5:c.76+958G>A	ENSP00000412754.1:n.76+958G>A
ENST00000463117.6:c.227G>A	ENSP00000440689.1:p.Arg76His
ENST00000477500.5:n.188G>A
ENST00000480558.1:n.452G>A
ENST00000541080.5:c.76+958G>A
ENST00000541261.1:c.227G>A	ENSP00000437799.1:p.Arg76His
NM_000773.3:c.227G>A	NP_000764.1:p.Arg76His
NM_000773.4:c.227G>A MANE Select	NP_000764.1:p.Arg76His