Canonical Allele Identifier: CA389466427

Gene: PAX9

Linked Data

• ClinVar Variation Id: 1721820
• ClinVar RCV Id: RCV002302192
• MyVariant Identifiers: chr14:g.37132345T>G (hg19) ; chr14:g.36663140T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663140T>G , CM000676.2:g.36663140T>G	GRCh38
NC_000014.8:g.37132345T>G , CM000676.1:g.37132345T>G	GRCh37
NC_000014.7:g.36202096T>G	NCBI36
NG_013357.1:g.10573T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.248T>G MANE Select	ENSP00000355245.6:p.Val83Gly
ENST00000555639.2:c.248T>G	ENSP00000501203.1:p.Val83Gly
ENST00000361487.6:c.248T>G	ENSP00000355245.6:p.Val83Gly
ENST00000402703.6:c.248T>G	ENSP00000384817.2:p.Val83Gly
ENST00000554201.1:c.-314T>G	ENSP00000450434.1:n.-314T>G
ENST00000555639.1:n.550T>G
NM_006194.3:c.248T>G	NP_006185.1:p.Val83Gly
NM_001372076.1:c.248T>G MANE Select	NP_001359005.1:p.Val83Gly
NM_006194.4:c.248T>G	NP_006185.1:p.Val83Gly