Canonical Allele Identifier: CA486097780

Gene: PAX9

Linked Data

• dbSNP Id: rs1489940441
• gnomAD v2: 14-37132310-C-A
• gnomAD v4: 14-36663105-C-A
• MyVariant Identifiers: chr14:g.37132310C>A (hg19) ; chr14:g.36663105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663105C>A , CM000676.2:g.36663105C>A	GRCh38
NC_000014.8:g.37132310C>A , CM000676.1:g.37132310C>A	GRCh37
NC_000014.7:g.36202061C>A	NCBI36
NG_013357.1:g.10538C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.213C>A MANE Select	ENSP00000355245.6:p.Ile71=
ENST00000555639.2:c.213C>A	ENSP00000501203.1:p.Ile71=
ENST00000361487.6:c.213C>A	ENSP00000355245.6:p.Ile71=
ENST00000402703.6:c.213C>A	ENSP00000384817.2:p.Ile71=
ENST00000554201.1:c.-349C>A	ENSP00000450434.1:n.-349C>A
ENST00000555639.1:n.515C>A
NM_006194.3:c.213C>A	NP_006185.1:p.Ile71=
NM_001372076.1:c.213C>A MANE Select	NP_001359005.1:p.Ile71=
NM_006194.4:c.213C>A	NP_006185.1:p.Ile71=