Canonical Allele Identifier: CA7158956
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064707
ClinVar RCV Id: RCV001374732
dbSNP Id: rs764595344
ExAC: 14:37132506 C / T
gnomAD v2: 14-37132506-C-T
gnomAD v4: 14-36663301-C-T
MyVariant Identifiers: chr14:g.37132506C>T (hg19) chr14:g.36663301C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663301C>T , CM000676.2:g.36663301C>T GRCh38
NC_000014.8:g.37132506C>T , CM000676.1:g.37132506C>T GRCh37
NC_000014.7:g.36202257C>T NCBI36
NG_013357.1:g.10734C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.409C>T MANE Select ENSP00000355245.6:p.Gln137Ter
ENST00000361487.6:c.409C>T ENSP00000355245.6:p.Gln137Ter
ENST00000402703.6:c.409C>T ENSP00000384817.2:p.Gln137Ter
ENST00000554201.1:c.-153C>T ENSP00000450434.1:n.-153C>T
NM_006194.3:c.409C>T NP_006185.1:p.Gln137Ter
NM_001372076.1:c.409C>T MANE Select NP_001359005.1:p.Gln137Ter
NM_006194.4:c.409C>T NP_006185.1:p.Gln137Ter
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