Canonical Allele Identifier: CA7659810
Gene: CYP1A2 HGNC NCBI

Linked Data

dbSNP Id: rs140747247
ExAC: 15:75042651 A / C
gnomAD v2: 15-75042651-A-C
gnomAD v3: 15-74750310-A-C
gnomAD v4: 15-74750310-A-C
MyVariant Identifiers: chr15:g.75042651A>C (hg19) chr15:g.74750310A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74750310A>C , CM000677.2:g.74750310A>C GRCh38
NC_000015.9:g.75042651A>C , CM000677.1:g.75042651A>C GRCh37
NC_000015.8:g.72829704A>C NCBI36
NG_008431.1:g.32769A>C
NG_008431.2:g.32769A>C
NG_061543.1:g.6466A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343932.5:c.572A>C MANE Select ENSP00000342007.4:p.Gln191Pro
ENST00000343932.4:c.572A>C ENSP00000342007.4:p.Gln191Pro
NM_000761.4:c.572A>C NP_000752.2:p.Gln191Pro
NM_000761.5:c.572A>C MANE Select NP_000752.2:p.Gln191Pro
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