Canonical Allele Identifier: CA7158937
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs752908209
ExAC: 14:37132411 G / A
gnomAD v2: 14-37132411-G-A
gnomAD v4: 14-36663206-G-A
COSMIC: COSM1369733
MyVariant Identifiers: chr14:g.37132411G>A (hg19) chr14:g.36663206G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663206G>A , CM000676.2:g.36663206G>A GRCh38
NC_000014.8:g.37132411G>A , CM000676.1:g.37132411G>A GRCh37
NC_000014.7:g.36202162G>A NCBI36
NG_013357.1:g.10639G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.314G>A MANE Select ENSP00000355245.6:p.Arg105His
ENST00000361487.6:c.314G>A ENSP00000355245.6:p.Arg105His
ENST00000402703.6:c.314G>A ENSP00000384817.2:p.Arg105His
ENST00000554201.1:c.-248G>A ENSP00000450434.1:n.-248G>A
NM_006194.3:c.314G>A NP_006185.1:p.Arg105His
NM_001372076.1:c.314G>A MANE Select NP_001359005.1:p.Arg105His
NM_006194.4:c.314G>A NP_006185.1:p.Arg105His
Search 100 bp 5'
Search 100 bp 3'