Canonical Allele Identifier: CA389466309

Gene: PAX9

Linked Data

• ClinVar Variation Id: 1693562
• ClinVar RCV Id: RCV002260957
• dbSNP Id: rs2139108057
• MyVariant Identifiers: chr14:g.37132288G>T (hg19) ; chr14:g.36663083G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663083G>T , CM000676.2:g.36663083G>T	GRCh38
NC_000014.8:g.37132288G>T , CM000676.1:g.37132288G>T	GRCh37
NC_000014.7:g.36202039G>T	NCBI36
NG_013357.1:g.10516G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.191G>T MANE Select	ENSP00000355245.6:p.Gly64Val
ENST00000555639.2:c.191G>T	ENSP00000501203.1:p.Gly64Val
ENST00000361487.6:c.191G>T	ENSP00000355245.6:p.Gly64Val
ENST00000402703.6:c.191G>T	ENSP00000384817.2:p.Gly64Val
ENST00000554201.1:c.-371G>T	ENSP00000450434.1:n.-371G>T
ENST00000555639.1:n.493G>T
NM_006194.3:c.191G>T	NP_006185.1:p.Gly64Val
NM_001372076.1:c.191G>T MANE Select	NP_001359005.1:p.Gly64Val
NM_006194.4:c.191G>T	NP_006185.1:p.Gly64Val