Canonical Allele Identifier: CA389466649
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1341363
ClinVar RCV Id: RCV001829279
dbSNP Id: rs2139108314
MyVariant Identifiers: chr14:g.37132447T>G (hg19) chr14:g.36663242T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663242T>G , CM000676.2:g.36663242T>G GRCh38
NC_000014.8:g.37132447T>G , CM000676.1:g.37132447T>G GRCh37
NC_000014.7:g.36202198T>G NCBI36
NG_013357.1:g.10675T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.350T>G MANE Select ENSP00000355245.6:p.Val117Gly
ENST00000361487.6:c.350T>G ENSP00000355245.6:p.Val117Gly
ENST00000402703.6:c.350T>G ENSP00000384817.2:p.Val117Gly
ENST00000554201.1:c.-212T>G ENSP00000450434.1:n.-212T>G
NM_006194.3:c.350T>G NP_006185.1:p.Val117Gly
NM_001372076.1:c.350T>G MANE Select NP_001359005.1:p.Val117Gly
NM_006194.4:c.350T>G NP_006185.1:p.Val117Gly
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