Canonical Allele Identifier: CA389466609
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663224T>C , CM000676.2:g.36663224T>C GRCh38
NC_000014.8:g.37132429T>C , CM000676.1:g.37132429T>C GRCh37
NC_000014.7:g.36202180T>C NCBI36
NG_013357.1:g.10657T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.332T>C MANE Select ENSP00000355245.6:p.Val111Ala
ENST00000361487.6:c.332T>C ENSP00000355245.6:p.Val111Ala
ENST00000402703.6:c.332T>C ENSP00000384817.2:p.Val111Ala
ENST00000554201.1:c.-230T>C ENSP00000450434.1:n.-230T>C
NM_006194.3:c.332T>C NP_006185.1:p.Val111Ala
NM_001372076.1:c.332T>C MANE Select NP_001359005.1:p.Val111Ala
NM_006194.4:c.332T>C NP_006185.1:p.Val111Ala