Canonical Allele Identifier: CA2611616837
Gene: CYP2E1 HGNC NCBI

Linked Data

gnomAD v4: 10-133539012-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133539012A>T , CM000672.2:g.133539012A>T GRCh38
NC_000010.10:g.135352516A>T , CM000672.1:g.135352516A>T GRCh37
NC_000010.9:g.135202506A>T NCBI36
NG_008383.1:g.16650A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252945.8:c.*48A>T MANE Select ENSP00000252945.3:n.*48A>T
ENST00000252945.7:c.*48A>T ENSP00000252945.3:n.*48A>T
ENST00000368520.1:n.1358+1120A>T
ENST00000463117.6:c.*48A>T ENSP00000440689.1:n.*48A>T
ENST00000469258.1:n.626A>T
NM_000773.3:c.*48A>T NP_000764.1:n.*48A>T
NM_000773.4:c.*48A>T MANE Select NP_000764.1:n.*48A>T
Search 100 bp 5'
Search 100 bp 3'