Canonical Allele Identifier: CA389466680
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663257C>T , CM000676.2:g.36663257C>T GRCh38
NC_000014.8:g.37132462C>T , CM000676.1:g.37132462C>T GRCh37
NC_000014.7:g.36202213C>T NCBI36
NG_013357.1:g.10690C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.365C>T MANE Select ENSP00000355245.6:p.Ser122Phe
ENST00000361487.6:c.365C>T ENSP00000355245.6:p.Ser122Phe
ENST00000402703.6:c.365C>T ENSP00000384817.2:p.Ser122Phe
ENST00000554201.1:c.-197C>T ENSP00000450434.1:n.-197C>T
NM_006194.3:c.365C>T NP_006185.1:p.Ser122Phe
NM_001372076.1:c.365C>T MANE Select NP_001359005.1:p.Ser122Phe
NM_006194.4:c.365C>T NP_006185.1:p.Ser122Phe