Canonical Allele Identifier: CA486097633

Gene: PAX9

Linked Data

• MyVariant Identifiers: chr14:g.37132241C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663036C>G , CM000676.2:g.36663036C>G	GRCh38
NC_000014.8:g.37132241C>G , CM000676.1:g.37132241C>G	GRCh37
NC_000014.7:g.36201992C>G	NCBI36
NG_013357.1:g.10469C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.144C>G MANE Select	ENSP00000355245.6:p.Val48=
ENST00000555639.2:c.144C>G	ENSP00000501203.1:p.Val48=
ENST00000361487.6:c.144C>G	ENSP00000355245.6:p.Val48=
ENST00000402703.6:c.144C>G	ENSP00000384817.2:p.Val48=
ENST00000554201.1:c.-418C>G	ENSP00000450434.1:n.-418C>G
ENST00000555639.1:n.446C>G
NM_006194.3:c.144C>G	NP_006185.1:p.Val48=
NM_001372076.1:c.144C>G MANE Select	NP_001359005.1:p.Val48=
NM_006194.4:c.144C>G	NP_006185.1:p.Val48=