Canonical Allele Identifier: CA7159029

Gene: PAX9

Linked Data

• ClinVar Variation Id: 225820
• ClinVar RCV Id: RCV001689743 ; RCV002054363
• dbSNP Id: rs2236007
• ExAC: 14:37132769 G / A
• gnomAD v2: 14-37132769-G-A
• gnomAD v3: 14-36663564-G-A
• gnomAD v4: 14-36663564-G-A
• MyVariant Identifiers: chr14:g.37132769G>A (hg19) ; chr14:g.36663564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663564G>A , CM000676.2:g.36663564G>A	GRCh38
NC_000014.8:g.37132769G>A , CM000676.1:g.37132769G>A	GRCh37
NC_000014.7:g.36202520G>A	NCBI36
NG_013357.1:g.10997G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361487.7:c.631+41G>A MANE Select	ENSP00000355245.6:n.631+41G>A
ENST00000361487.6:c.631+41G>A	ENSP00000355245.6:n.631+41G>A
ENST00000402703.6:c.631+41G>A	ENSP00000384817.2:n.631+41G>A
ENST00000554201.1:c.70+41G>A	ENSP00000450434.1:n.70+41G>A
NM_006194.3:c.631+41G>A	NP_006185.1:n.631+41G>A
NM_001372076.1:c.631+41G>A MANE Select	NP_001359005.1:n.631+41G>A
NM_006194.4:c.631+41G>A	NP_006185.1:n.631+41G>A