Canonical Allele Identifier: CA389467082
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663452C>A , CM000676.2:g.36663452C>A GRCh38
NC_000014.8:g.37132657C>A , CM000676.1:g.37132657C>A GRCh37
NC_000014.7:g.36202408C>A NCBI36
NG_013357.1:g.10885C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.560C>A MANE Select ENSP00000355245.6:p.Ala187Asp
ENST00000361487.6:c.560C>A ENSP00000355245.6:p.Ala187Asp
ENST00000402703.6:c.560C>A ENSP00000384817.2:p.Ala187Asp
ENST00000554201.1:c.-2C>A ENSP00000450434.1:n.-2C>A
NM_006194.3:c.560C>A NP_006185.1:p.Ala187Asp
NM_001372076.1:c.560C>A MANE Select NP_001359005.1:p.Ala187Asp
NM_006194.4:c.560C>A NP_006185.1:p.Ala187Asp