Canonical Allele Identifier: CA2611616897
Gene: CYP2E1 HGNC NCBI

Linked Data

gnomAD v4: 10-133539039-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133539039T>C , CM000672.2:g.133539039T>C GRCh38
NC_000010.10:g.135352543T>C , CM000672.1:g.135352543T>C GRCh37
NC_000010.9:g.135202533T>C NCBI36
NG_008383.1:g.16677T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252945.8:c.*75T>C MANE Select ENSP00000252945.3:n.*75T>C
ENST00000252945.7:c.*75T>C ENSP00000252945.3:n.*75T>C
ENST00000368520.1:n.1358+1147T>C
ENST00000463117.6:c.*75T>C ENSP00000440689.1:n.*75T>C
ENST00000469258.1:n.653T>C
NM_000773.3:c.*75T>C NP_000764.1:n.*75T>C
NM_000773.4:c.*75T>C MANE Select NP_000764.1:n.*75T>C
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