Canonical Allele Identifier: CA378842126
Gene: CYP2E1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538809G>A , CM000672.2:g.133538809G>A GRCh38
NC_000010.10:g.135352313G>A , CM000672.1:g.135352313G>A GRCh37
NC_000010.9:g.135202303G>A NCBI36
NG_008383.1:g.16447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1327G>A MANE Select ENSP00000252945.3:p.Ala443Thr
ENST00000252945.7:c.1327G>A ENSP00000252945.3:p.Ala443Thr
ENST00000368520.1:n.1358+917G>A
ENST00000418356.1:c.916G>A ENSP00000397299.1:p.Ala306Thr
ENST00000421586.5:c.1066G>A ENSP00000412754.1:p.Ala356Thr
ENST00000463117.6:c.1327G>A ENSP00000440689.1:p.Ala443Thr
ENST00000469258.1:n.423G>A
ENST00000541080.5:c.743G>A
NM_000773.3:c.1327G>A NP_000764.1:p.Ala443Thr
NM_000773.4:c.1327G>A MANE Select NP_000764.1:p.Ala443Thr