Canonical Allele Identifier: CA389467132
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663478C>G , CM000676.2:g.36663478C>G GRCh38
NC_000014.8:g.37132683C>G , CM000676.1:g.37132683C>G GRCh37
NC_000014.7:g.36202434C>G NCBI36
NG_013357.1:g.10911C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.586C>G MANE Select ENSP00000355245.6:p.His196Asp
ENST00000361487.6:c.586C>G ENSP00000355245.6:p.His196Asp
ENST00000402703.6:c.586C>G ENSP00000384817.2:p.His196Asp
ENST00000554201.1:c.25C>G ENSP00000450434.1:p.His9Asp
NM_006194.3:c.586C>G NP_006185.1:p.His196Asp
NM_001372076.1:c.586C>G MANE Select NP_001359005.1:p.His196Asp
NM_006194.4:c.586C>G NP_006185.1:p.His196Asp