Canonical Allele Identifier: CA389466709
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663272T>A , CM000676.2:g.36663272T>A GRCh38
NC_000014.8:g.37132477T>A , CM000676.1:g.37132477T>A GRCh37
NC_000014.7:g.36202228T>A NCBI36
NG_013357.1:g.10705T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.380T>A MANE Select ENSP00000355245.6:p.Leu127Gln
ENST00000361487.6:c.380T>A ENSP00000355245.6:p.Leu127Gln
ENST00000402703.6:c.380T>A ENSP00000384817.2:p.Leu127Gln
ENST00000554201.1:c.-182T>A ENSP00000450434.1:n.-182T>A
NM_006194.3:c.380T>A NP_006185.1:p.Leu127Gln
NM_001372076.1:c.380T>A MANE Select NP_001359005.1:p.Leu127Gln
NM_006194.4:c.380T>A NP_006185.1:p.Leu127Gln