Canonical Allele Identifier: CA389466795
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351539
ClinVar RCV Id: RCV002049257
dbSNP Id: rs1881355965
MyVariant Identifiers: chr14:g.37132517C>A (hg19) chr14:g.36663312C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663312C>A , CM000676.2:g.36663312C>A GRCh38
NC_000014.8:g.37132517C>A , CM000676.1:g.37132517C>A GRCh37
NC_000014.7:g.36202268C>A NCBI36
NG_013357.1:g.10745C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.420C>A MANE Select ENSP00000355245.6:p.Tyr140Ter
ENST00000361487.6:c.420C>A ENSP00000355245.6:p.Tyr140Ter
ENST00000402703.6:c.420C>A ENSP00000384817.2:p.Tyr140Ter
ENST00000554201.1:c.-142C>A ENSP00000450434.1:n.-142C>A
NM_006194.3:c.420C>A NP_006185.1:p.Tyr140Ter
NM_001372076.1:c.420C>A MANE Select NP_001359005.1:p.Tyr140Ter
NM_006194.4:c.420C>A NP_006185.1:p.Tyr140Ter
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