Canonical Allele Identifier: CA389467146
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663485T>A , CM000676.2:g.36663485T>A GRCh38
NC_000014.8:g.37132690T>A , CM000676.1:g.37132690T>A GRCh37
NC_000014.7:g.36202441T>A NCBI36
NG_013357.1:g.10918T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.593T>A MANE Select ENSP00000355245.6:p.Val198Asp
ENST00000361487.6:c.593T>A ENSP00000355245.6:p.Val198Asp
ENST00000402703.6:c.593T>A ENSP00000384817.2:p.Val198Asp
ENST00000554201.1:c.32T>A ENSP00000450434.1:p.Val11Asp
NM_006194.3:c.593T>A NP_006185.1:p.Val198Asp
NM_001372076.1:c.593T>A MANE Select NP_001359005.1:p.Val198Asp
NM_006194.4:c.593T>A NP_006185.1:p.Val198Asp