Canonical Allele Identifier: CA389466931
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1351209
ClinVar RCV Id: RCV002044559
dbSNP Id: rs2139108563
MyVariant Identifiers: chr14:g.37132579C>A (hg19) chr14:g.36663374C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663374C>A , CM000676.2:g.36663374C>A GRCh38
NC_000014.8:g.37132579C>A , CM000676.1:g.37132579C>A GRCh37
NC_000014.7:g.36202330C>A NCBI36
NG_013357.1:g.10807C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.482C>A MANE Select ENSP00000355245.6:p.Ser161Ter
ENST00000361487.6:c.482C>A ENSP00000355245.6:p.Ser161Ter
ENST00000402703.6:c.482C>A ENSP00000384817.2:p.Ser161Ter
ENST00000554201.1:c.-80C>A ENSP00000450434.1:n.-80C>A
NM_006194.3:c.482C>A NP_006185.1:p.Ser161Ter
NM_001372076.1:c.482C>A MANE Select NP_001359005.1:p.Ser161Ter
NM_006194.4:c.482C>A NP_006185.1:p.Ser161Ter
Search 100 bp 5'
Search 100 bp 3'