Canonical Allele Identifier: CA486097694

Gene: PAX9

Linked Data

• dbSNP Id: rs1222377802
• gnomAD v3: 14-36663069-A-G
• gnomAD v4: 14-36663069-A-G
• MyVariant Identifiers: chr14:g.37132274A>G (hg19) ; chr14:g.36663069A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663069A>G , CM000676.2:g.36663069A>G	GRCh38
NC_000014.8:g.37132274A>G , CM000676.1:g.37132274A>G	GRCh37
NC_000014.7:g.36202025A>G	NCBI36
NG_013357.1:g.10502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.177A>G MANE Select	ENSP00000355245.6:p.Arg59=
ENST00000555639.2:c.177A>G	ENSP00000501203.1:p.Arg59=
ENST00000361487.6:c.177A>G	ENSP00000355245.6:p.Arg59=
ENST00000402703.6:c.177A>G	ENSP00000384817.2:p.Arg59=
ENST00000554201.1:c.-385A>G	ENSP00000450434.1:n.-385A>G
ENST00000555639.1:n.479A>G
NM_006194.3:c.177A>G	NP_006185.1:p.Arg59=
NM_001372076.1:c.177A>G MANE Select	NP_001359005.1:p.Arg59=
NM_006194.4:c.177A>G	NP_006185.1:p.Arg59=