Canonical Allele Identifier: CA389466207
Gene: PAX9 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663037T>G , CM000676.2:g.36663037T>G GRCh38
NC_000014.8:g.37132242T>G , CM000676.1:g.37132242T>G GRCh37
NC_000014.7:g.36201993T>G NCBI36
NG_013357.1:g.10470T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.145T>G MANE Select ENSP00000355245.6:p.Ser49Ala
ENST00000555639.2:c.145T>G ENSP00000501203.1:p.Ser49Ala
ENST00000361487.6:c.145T>G ENSP00000355245.6:p.Ser49Ala
ENST00000402703.6:c.145T>G ENSP00000384817.2:p.Ser49Ala
ENST00000554201.1:c.-417T>G ENSP00000450434.1:n.-417T>G
ENST00000555639.1:n.447T>G
NM_006194.3:c.145T>G NP_006185.1:p.Ser49Ala
NM_001372076.1:c.145T>G MANE Select NP_001359005.1:p.Ser49Ala
NM_006194.4:c.145T>G NP_006185.1:p.Ser49Ala