Canonical Allele Identifier: CA7158935
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2577677
ClinVar RCV Id: RCV003325014
dbSNP Id: rs759490130
ExAC: 14:37132392 G / T
gnomAD v2: 14-37132392-G-T
gnomAD v4: 14-36663187-G-T
MyVariant Identifiers: chr14:g.37132392G>T (hg19) chr14:g.36663187G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663187G>T , CM000676.2:g.36663187G>T GRCh38
NC_000014.8:g.37132392G>T , CM000676.1:g.37132392G>T GRCh37
NC_000014.7:g.36202143G>T NCBI36
NG_013357.1:g.10620G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.295G>T MANE Select ENSP00000355245.6:p.Ala99Ser
ENST00000361487.6:c.295G>T ENSP00000355245.6:p.Ala99Ser
ENST00000402703.6:c.295G>T ENSP00000384817.2:p.Ala99Ser
ENST00000554201.1:c.-267G>T ENSP00000450434.1:n.-267G>T
NM_006194.3:c.295G>T NP_006185.1:p.Ala99Ser
NM_001372076.1:c.295G>T MANE Select NP_001359005.1:p.Ala99Ser
NM_006194.4:c.295G>T NP_006185.1:p.Ala99Ser
Search 100 bp 5'
Search 100 bp 3'