Canonical Allele Identifier: CA123443

Gene: PAX9

Linked Data

• ClinVar Variation Id: 13770
• ClinVar RCV Id: RCV000014780 ; RCV000530457 ; RCV003934833 ; RCV002054439
• dbSNP Id: rs28933373
• gnomAD v2: 14-37132368-A-G
• gnomAD v3: 14-36663163-A-G
• gnomAD v4: 14-36663163-A-G
• MyVariant Identifiers: chr14:g.37132368A>G (hg19) ; chr14:g.36663163A>G (hg38)
• PubMed: PMID:12605438 ; PMID:19429910

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663163A>G , CM000676.2:g.36663163A>G	GRCh38
NC_000014.8:g.37132368A>G , CM000676.1:g.37132368A>G	GRCh37
NC_000014.7:g.36202119A>G	NCBI36
NG_013357.1:g.10596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.271A>G MANE Select	ENSP00000355245.6:p.Lys91Glu
ENST00000361487.6:c.271A>G	ENSP00000355245.6:p.Lys91Glu
ENST00000402703.6:c.271A>G	ENSP00000384817.2:p.Lys91Glu
ENST00000554201.1:c.-291A>G	ENSP00000450434.1:n.-291A>G
NM_006194.3:c.271A>G	NP_006185.1:p.Lys91Glu
NM_001372076.1:c.271A>G MANE Select	NP_001359005.1:p.Lys91Glu
NM_006194.4:c.271A>G	NP_006185.1:p.Lys91Glu