Canonical Allele Identifier: CA378842653
Gene: CYP2E1 HGNC NCBI

Linked Data

dbSNP Id: rs1706844522

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538899C>T , CM000672.2:g.133538899C>T GRCh38
NC_000010.10:g.135352403C>T , CM000672.1:g.135352403C>T GRCh37
NC_000010.9:g.135202393C>T NCBI36
NG_008383.1:g.16537C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1417C>T MANE Select ENSP00000252945.3:p.Pro473Ser
ENST00000252945.7:c.1417C>T ENSP00000252945.3:p.Pro473Ser
ENST00000368520.1:n.1358+1007C>T
ENST00000463117.6:c.1417C>T ENSP00000440689.1:p.Pro473Ser
ENST00000469258.1:n.513C>T
NM_000773.3:c.1417C>T NP_000764.1:p.Pro473Ser
NM_000773.4:c.1417C>T MANE Select NP_000764.1:p.Pro473Ser