Canonical Allele Identifier: CA389466534
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1441977733
gnomAD v2: 14-37132393-C-T
gnomAD v3: 14-36663188-C-T
gnomAD v4: 14-36663188-C-T
COSMIC: COSM4633898
MyVariant Identifiers: chr14:g.37132393C>T (hg19) chr14:g.36663188C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663188C>T , CM000676.2:g.36663188C>T GRCh38
NC_000014.8:g.37132393C>T , CM000676.1:g.37132393C>T GRCh37
NC_000014.7:g.36202144C>T NCBI36
NG_013357.1:g.10621C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.296C>T MANE Select ENSP00000355245.6:p.Ala99Val
ENST00000361487.6:c.296C>T ENSP00000355245.6:p.Ala99Val
ENST00000402703.6:c.296C>T ENSP00000384817.2:p.Ala99Val
ENST00000554201.1:c.-266C>T ENSP00000450434.1:n.-266C>T
NM_006194.3:c.296C>T NP_006185.1:p.Ala99Val
NM_001372076.1:c.296C>T MANE Select NP_001359005.1:p.Ala99Val
NM_006194.4:c.296C>T NP_006185.1:p.Ala99Val
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