Canonical Allele Identifier: CA123454
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 13781
ClinVar RCV Id: RCV000014791
dbSNP Id: rs121917720

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663031C>T , CM000676.2:g.36663031C>T GRCh38
NC_000014.8:g.37132236C>T , CM000676.1:g.37132236C>T GRCh37
NC_000014.7:g.36201987C>T NCBI36
NG_013357.1:g.10464C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.139C>T MANE Select ENSP00000355245.6:p.Arg47Trp
ENST00000555639.2:c.139C>T ENSP00000501203.1:p.Arg47Trp
ENST00000361487.6:c.139C>T ENSP00000355245.6:p.Arg47Trp
ENST00000402703.6:c.139C>T ENSP00000384817.2:p.Arg47Trp
ENST00000554201.1:c.-423C>T ENSP00000450434.1:n.-423C>T
ENST00000555639.1:n.441C>T
NM_006194.3:c.139C>T NP_006185.1:p.Arg47Trp
NM_001372076.1:c.139C>T MANE Select NP_001359005.1:p.Arg47Trp
NM_006194.4:c.139C>T NP_006185.1:p.Arg47Trp