Canonical Allele Identifier: CA389466269

Gene: PAX9

Linked Data

• dbSNP Id: rs1284027470
• COSMIC: COSM4050724
• MyVariant Identifiers: chr14:g.37132270C>T (hg19) ; chr14:g.36663065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663065C>T , CM000676.2:g.36663065C>T	GRCh38
NC_000014.8:g.37132270C>T , CM000676.1:g.37132270C>T	GRCh37
NC_000014.7:g.36202021C>T	NCBI36
NG_013357.1:g.10498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.173C>T MANE Select	ENSP00000355245.6:p.Ala58Val
ENST00000555639.2:c.173C>T	ENSP00000501203.1:p.Ala58Val
ENST00000361487.6:c.173C>T	ENSP00000355245.6:p.Ala58Val
ENST00000402703.6:c.173C>T	ENSP00000384817.2:p.Ala58Val
ENST00000554201.1:c.-389C>T	ENSP00000450434.1:n.-389C>T
ENST00000555639.1:n.475C>T
NM_006194.3:c.173C>T	NP_006185.1:p.Ala58Val
NM_001372076.1:c.173C>T MANE Select	NP_001359005.1:p.Ala58Val
NM_006194.4:c.173C>T	NP_006185.1:p.Ala58Val