Canonical Allele Identifier: CA389465934

Gene: PAX9

Linked Data

• COSMIC: COSM6140619
• MyVariant Identifiers: chr14:g.37132112C>A (hg19) ; chr14:g.36662907C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36662907C>A , CM000676.2:g.36662907C>A	GRCh38
NC_000014.8:g.37132112C>A , CM000676.1:g.37132112C>A	GRCh37
NC_000014.7:g.36201863C>A	NCBI36
NG_013357.1:g.10340C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.15C>A MANE Select	ENSP00000355245.6:p.Phe5Leu
ENST00000555639.2:c.15C>A	ENSP00000501203.1:p.Phe5Leu
ENST00000361487.6:c.15C>A	ENSP00000355245.6:p.Phe5Leu
ENST00000402703.6:c.15C>A	ENSP00000384817.2:p.Phe5Leu
ENST00000554201.1:c.-547C>A	ENSP00000450434.1:n.-547C>A
ENST00000555639.1:n.317C>A
NM_006194.3:c.15C>A	NP_006185.1:p.Phe5Leu
NM_001372076.1:c.15C>A MANE Select	NP_001359005.1:p.Phe5Leu
NM_006194.4:c.15C>A	NP_006185.1:p.Phe5Leu