Canonical Allele Identifier: CA389466297

Gene: PAX9

Linked Data

• dbSNP Id: rs1319882418
• gnomAD v2: 14-37132283-G-C
• gnomAD v4: 14-36663078-G-C
• MyVariant Identifiers: chr14:g.37132283G>C (hg19) ; chr14:g.36663078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663078G>C , CM000676.2:g.36663078G>C	GRCh38
NC_000014.8:g.37132283G>C , CM000676.1:g.37132283G>C	GRCh37
NC_000014.7:g.36202034G>C	NCBI36
NG_013357.1:g.10511G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.186G>C MANE Select	ENSP00000355245.6:p.Glu62Asp
ENST00000555639.2:c.186G>C	ENSP00000501203.1:p.Glu62Asp
ENST00000361487.6:c.186G>C	ENSP00000355245.6:p.Glu62Asp
ENST00000402703.6:c.186G>C	ENSP00000384817.2:p.Glu62Asp
ENST00000554201.1:c.-376G>C	ENSP00000450434.1:n.-376G>C
ENST00000555639.1:n.488G>C
NM_006194.3:c.186G>C	NP_006185.1:p.Glu62Asp
NM_001372076.1:c.186G>C MANE Select	NP_001359005.1:p.Glu62Asp
NM_006194.4:c.186G>C	NP_006185.1:p.Glu62Asp