Canonical Allele Identifier: CA378842751
Gene: CYP2E1 HGNC NCBI

Linked Data

gnomAD v4: 10-133538920-T-C
MyVariant Identifiers: chr10:g.135352424T>C (hg19) chr10:g.133538920T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133538920T>C , CM000672.2:g.133538920T>C GRCh38
NC_000010.10:g.135352424T>C , CM000672.1:g.135352424T>C GRCh37
NC_000010.9:g.135202414T>C NCBI36
NG_008383.1:g.16558T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.1438T>C MANE Select ENSP00000252945.3:p.Cys480Arg
ENST00000252945.7:c.1438T>C ENSP00000252945.3:p.Cys480Arg
ENST00000368520.1:n.1358+1028T>C
ENST00000463117.6:c.1438T>C ENSP00000440689.1:p.Cys480Arg
ENST00000469258.1:n.534T>C
NM_000773.3:c.1438T>C NP_000764.1:p.Cys480Arg
NM_000773.4:c.1438T>C MANE Select NP_000764.1:p.Cys480Arg
Search 100 bp 5'
Search 100 bp 3'