Canonical Allele Identifier: CA7158917

Gene: PAX9

Linked Data

• dbSNP Id: rs751783950
• ExAC: 14:37132214 G / A
• gnomAD v2: 14-37132214-G-A
• gnomAD v4: 14-36663009-G-A
• MyVariant Identifiers: chr14:g.37132214G>A (hg19) ; chr14:g.36663009G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663009G>A , CM000676.2:g.36663009G>A	GRCh38
NC_000014.8:g.37132214G>A , CM000676.1:g.37132214G>A	GRCh37
NC_000014.7:g.36201965G>A	NCBI36
NG_013357.1:g.10442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.117G>A MANE Select	ENSP00000355245.6:p.Pro39=
ENST00000555639.2:c.117G>A	ENSP00000501203.1:p.Pro39=
ENST00000361487.6:c.117G>A	ENSP00000355245.6:p.Pro39=
ENST00000402703.6:c.117G>A	ENSP00000384817.2:p.Pro39=
ENST00000554201.1:c.-445G>A	ENSP00000450434.1:n.-445G>A
ENST00000555639.1:n.419G>A
NM_006194.3:c.117G>A	NP_006185.1:p.Pro39=
NM_001372076.1:c.117G>A MANE Select	NP_001359005.1:p.Pro39=
NM_006194.4:c.117G>A	NP_006185.1:p.Pro39=