Canonical Allele Identifier: CA7159031

Gene: PAX9

Linked Data

• dbSNP Id: rs367899839
• ExAC: 14:37132774 C / T
• gnomAD v2: 14-37132774-C-T
• gnomAD v3: 14-36663569-C-T
• gnomAD v4: 14-36663569-C-T
• MyVariant Identifiers: chr14:g.37132774C>T (hg19) ; chr14:g.36663569C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663569C>T , CM000676.2:g.36663569C>T	GRCh38
NC_000014.8:g.37132774C>T , CM000676.1:g.37132774C>T	GRCh37
NC_000014.7:g.36202525C>T	NCBI36
NG_013357.1:g.11002C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361487.7:c.631+46C>T MANE Select	ENSP00000355245.6:n.631+46C>T
ENST00000361487.6:c.631+46C>T	ENSP00000355245.6:n.631+46C>T
ENST00000402703.6:c.631+46C>T	ENSP00000384817.2:n.631+46C>T
ENST00000554201.1:c.70+46C>T	ENSP00000450434.1:n.70+46C>T
NM_006194.3:c.631+46C>T	NP_006185.1:n.631+46C>T
NM_001372076.1:c.631+46C>T MANE Select	NP_001359005.1:n.631+46C>T
NM_006194.4:c.631+46C>T	NP_006185.1:n.631+46C>T