Canonical Allele Identifier: CA619123194
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs1212135311
gnomAD v2: 15-75047725-T-C
gnomAD v3: 15-74755384-T-C
gnomAD v4: 15-74755384-T-C
MyVariant Identifiers: chr15:g.75047725T>C (hg19) chr15:g.74755384T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74755384T>C , CM000677.2:g.74755384T>C GRCh38
NC_000015.9:g.75047725T>C , CM000677.1:g.75047725T>C GRCh37
NC_000015.8:g.72834778T>C NCBI36
NG_008431.1:g.37843T>C
NG_008431.2:g.37843T>C
NG_061543.1:g.11540T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.*296T>C MANE Select ENSP00000342007.4:n.*296T>C
ENST00000343932.4:c.*296T>C ENSP00000342007.4:n.*296T>C
NM_000761.4:c.*296T>C NP_000752.2:n.*296T>C
NM_000761.5:c.*296T>C MANE Select NP_000752.2:n.*296T>C
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