Canonical Allele Identifier: CA7158921
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2718535
ClinVar RCV Id: RCV003592844
dbSNP Id: rs200418409
ExAC: 14:37132253 C / T
gnomAD v2: 14-37132253-C-T
gnomAD v3: 14-36663048-C-T
gnomAD v4: 14-36663048-C-T
MyVariant Identifiers: chr14:g.37132253C>T (hg19) chr14:g.36663048C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663048C>T , CM000676.2:g.36663048C>T GRCh38
NC_000014.8:g.37132253C>T , CM000676.1:g.37132253C>T GRCh37
NC_000014.7:g.36202004C>T NCBI36
NG_013357.1:g.10481C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.156C>T MANE Select ENSP00000355245.6:p.Cys52=
ENST00000555639.2:c.156C>T ENSP00000501203.1:p.Cys52=
ENST00000361487.6:c.156C>T ENSP00000355245.6:p.Cys52=
ENST00000402703.6:c.156C>T ENSP00000384817.2:p.Cys52=
ENST00000554201.1:c.-406C>T ENSP00000450434.1:n.-406C>T
ENST00000555639.1:n.458C>T
NM_006194.3:c.156C>T NP_006185.1:p.Cys52=
NM_001372076.1:c.156C>T MANE Select NP_001359005.1:p.Cys52=
NM_006194.4:c.156C>T NP_006185.1:p.Cys52=
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