Canonical Allele Identifier: CA9452577
Community Standard Title: NM_000762.6(CYP2A6):c.1412T>C (p.Ile471Thr)
Gene: CYP2A6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40843869A>G , CM000681.2:g.40843869A>G GRCh38
NC_000019.9:g.41349774A>G , CM000681.1:g.41349774A>G GRCh37
NC_000019.8:g.46041614A>G NCBI36
NG_008377.1:g.11579T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000762.6:c.1412T>C MANE Select NP_000753.3:p.Ile471Thr
ENST00000301141.10:c.1412T>C MANE Select ENSP00000301141.4:p.Ile471Thr
NM_000762.5:c.1412T>C NP_000753.3:p.Ile471Thr
ENST00000301141.9:c.1412T>C ENSP00000301141.4:p.Ile471Thr
ENST00000599960.1:n.331T>C
ENST00000601627.1:c.119+42454A>G
ENST00000610301.1:c.1412T>C ENSP00000477899.1:p.Ile471Thr
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