Canonical Allele Identifier: CA7159003
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs767010050
ExAC: 14:37132683 C / T
gnomAD v2: 14-37132683-C-T
gnomAD v4: 14-36663478-C-T
MyVariant Identifiers: chr14:g.37132683C>T (hg19) chr14:g.36663478C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663478C>T , CM000676.2:g.36663478C>T GRCh38
NC_000014.8:g.37132683C>T , CM000676.1:g.37132683C>T GRCh37
NC_000014.7:g.36202434C>T NCBI36
NG_013357.1:g.10911C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.586C>T MANE Select ENSP00000355245.6:p.His196Tyr
ENST00000361487.6:c.586C>T ENSP00000355245.6:p.His196Tyr
ENST00000402703.6:c.586C>T ENSP00000384817.2:p.His196Tyr
ENST00000554201.1:c.25C>T ENSP00000450434.1:p.His9Tyr
NM_006194.3:c.586C>T NP_006185.1:p.His196Tyr
NM_001372076.1:c.586C>T MANE Select NP_001359005.1:p.His196Tyr
NM_006194.4:c.586C>T NP_006185.1:p.His196Tyr
Search 100 bp 5'
Search 100 bp 3'