Canonical Allele Identifier: CA389466419

Gene: PAX9

Linked Data

• COSMIC: COSM5504041
• MyVariant Identifiers: chr14:g.37132341A>T (hg19) ; chr14:g.36663136A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663136A>T , CM000676.2:g.36663136A>T	GRCh38
NC_000014.8:g.37132341A>T , CM000676.1:g.37132341A>T	GRCh37
NC_000014.7:g.36202092A>T	NCBI36
NG_013357.1:g.10569A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.244A>T MANE Select	ENSP00000355245.6:p.Thr82Ser
ENST00000555639.2:c.244A>T	ENSP00000501203.1:p.Thr82Ser
ENST00000361487.6:c.244A>T	ENSP00000355245.6:p.Thr82Ser
ENST00000402703.6:c.244A>T	ENSP00000384817.2:p.Thr82Ser
ENST00000554201.1:c.-318A>T	ENSP00000450434.1:n.-318A>T
ENST00000555639.1:n.546A>T
NM_006194.3:c.244A>T	NP_006185.1:p.Thr82Ser
NM_001372076.1:c.244A>T MANE Select	NP_001359005.1:p.Thr82Ser
NM_006194.4:c.244A>T	NP_006185.1:p.Thr82Ser