Canonical Allele Identifier: CA7158983
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 313168
ClinVar RCV Id: RCV000371605 RCV000545209 RCV002292520
dbSNP Id: rs61734510
ExAC: 14:37132613 G / A
gnomAD v2: 14-37132613-G-A
gnomAD v3: 14-36663408-G-A
gnomAD v4: 14-36663408-G-A
MyVariant Identifiers: chr14:g.37132613G>A (hg19) chr14:g.36663408G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663408G>A , CM000676.2:g.36663408G>A GRCh38
NC_000014.8:g.37132613G>A , CM000676.1:g.37132613G>A GRCh37
NC_000014.7:g.36202364G>A NCBI36
NG_013357.1:g.10841G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.516G>A MANE Select ENSP00000355245.6:p.Lys172=
ENST00000361487.6:c.516G>A ENSP00000355245.6:p.Lys172=
ENST00000402703.6:c.516G>A ENSP00000384817.2:p.Lys172=
ENST00000554201.1:c.-46G>A ENSP00000450434.1:n.-46G>A
NM_006194.3:c.516G>A NP_006185.1:p.Lys172=
NM_001372076.1:c.516G>A MANE Select NP_001359005.1:p.Lys172=
NM_006194.4:c.516G>A NP_006185.1:p.Lys172=
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