Canonical Allele Identifier: CA389466177

Gene: PAX9

Linked Data

• ClinVar Variation Id: 3032155
• ClinVar RCV Id: RCV003901848
• MyVariant Identifiers: chr14:g.37132227C>T (hg19) ; chr14:g.36663022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663022C>T , CM000676.2:g.36663022C>T	GRCh38
NC_000014.8:g.37132227C>T , CM000676.1:g.37132227C>T	GRCh37
NC_000014.7:g.36201978C>T	NCBI36
NG_013357.1:g.10455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.130C>T MANE Select	ENSP00000355245.6:p.Arg44Cys
ENST00000555639.2:c.130C>T	ENSP00000501203.1:p.Arg44Cys
ENST00000361487.6:c.130C>T	ENSP00000355245.6:p.Arg44Cys
ENST00000402703.6:c.130C>T	ENSP00000384817.2:p.Arg44Cys
ENST00000554201.1:c.-432C>T	ENSP00000450434.1:n.-432C>T
ENST00000555639.1:n.432C>T
NM_006194.3:c.130C>T	NP_006185.1:p.Arg44Cys
NM_001372076.1:c.130C>T MANE Select	NP_001359005.1:p.Arg44Cys
NM_006194.4:c.130C>T	NP_006185.1:p.Arg44Cys