Canonical Allele Identifier: CA7158941
Gene: PAX9 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.36663232A>C
GRCh37 chr14:g.37132437A>C
Revel Score:
ENST00000402703 0.874
ENST00000361487 (MANE Select) 0.874
gnomAD v2:
14:37132437 A / C
gnomAD v3:
14:36663232 A / C
gnomAD v4:
chr14-36663232-A-C
Joint Max Group AF 0.00001773 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663232A>C , CM000676.2:g.36663232A>C GRCh38
NC_000014.8:g.37132437A>C , CM000676.1:g.37132437A>C GRCh37
NC_000014.7:g.36202188A>C NCBI36
NG_013357.1:g.10665A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.340A>C MANE Select ENSP00000355245.6:p.Lys114Gln
ENST00000361487.6:c.340A>C ENSP00000355245.6:p.Lys114Gln
ENST00000402703.6:c.340A>C ENSP00000384817.2:p.Lys114Gln
ENST00000554201.1:c.-222A>C ENSP00000450434.1:n.-222A>C
NM_006194.3:c.340A>C NP_006185.1:p.Lys114Gln
NM_001372076.1:c.340A>C MANE Select NP_001359005.1:p.Lys114Gln
NM_006194.4:c.340A>C NP_006185.1:p.Lys114Gln
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