Canonical Allele Identifier: CA389466179

Gene: PAX9

Linked Data

• gnomAD v4: 14-36663023-G-A
• MyVariant Identifiers: chr14:g.37132228G>A (hg19) ; chr14:g.36663023G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663023G>A , CM000676.2:g.36663023G>A	GRCh38
NC_000014.8:g.37132228G>A , CM000676.1:g.37132228G>A	GRCh37
NC_000014.7:g.36201979G>A	NCBI36
NG_013357.1:g.10456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.131G>A MANE Select	ENSP00000355245.6:p.Arg44His
ENST00000555639.2:c.131G>A	ENSP00000501203.1:p.Arg44His
ENST00000361487.6:c.131G>A	ENSP00000355245.6:p.Arg44His
ENST00000402703.6:c.131G>A	ENSP00000384817.2:p.Arg44His
ENST00000554201.1:c.-431G>A	ENSP00000450434.1:n.-431G>A
ENST00000555639.1:n.433G>A
NM_006194.3:c.131G>A	NP_006185.1:p.Arg44His
NM_001372076.1:c.131G>A MANE Select	NP_001359005.1:p.Arg44His
NM_006194.4:c.131G>A	NP_006185.1:p.Arg44His