Canonical Allele Identifier: CA389466368

Gene: PAX9

Linked Data

• MyVariant Identifiers: chr14:g.37132317A>T (hg19) ; chr14:g.36663112A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.36663112A>T , CM000676.2:g.36663112A>T	GRCh38
NC_000014.8:g.37132317A>T , CM000676.1:g.37132317A>T	GRCh37
NC_000014.7:g.36202068A>T	NCBI36
NG_013357.1:g.10545A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361487.7:c.220A>T MANE Select	ENSP00000355245.6:p.Ser74Cys
ENST00000555639.2:c.220A>T	ENSP00000501203.1:p.Ser74Cys
ENST00000361487.6:c.220A>T	ENSP00000355245.6:p.Ser74Cys
ENST00000402703.6:c.220A>T	ENSP00000384817.2:p.Ser74Cys
ENST00000554201.1:c.-342A>T	ENSP00000450434.1:n.-342A>T
ENST00000555639.1:n.522A>T
NM_006194.3:c.220A>T	NP_006185.1:p.Ser74Cys
NM_001372076.1:c.220A>T MANE Select	NP_001359005.1:p.Ser74Cys
NM_006194.4:c.220A>T	NP_006185.1:p.Ser74Cys