Canonical Allele Identifier: CA389466217
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132247C>A (hg19) chr14:g.36663042C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663042C>A , CM000676.2:g.36663042C>A GRCh38
NC_000014.8:g.37132247C>A , CM000676.1:g.37132247C>A GRCh37
NC_000014.7:g.36201998C>A NCBI36
NG_013357.1:g.10475C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.150C>A MANE Select ENSP00000355245.6:p.His50Gln
ENST00000555639.2:c.150C>A ENSP00000501203.1:p.His50Gln
ENST00000361487.6:c.150C>A ENSP00000355245.6:p.His50Gln
ENST00000402703.6:c.150C>A ENSP00000384817.2:p.His50Gln
ENST00000554201.1:c.-412C>A ENSP00000450434.1:n.-412C>A
ENST00000555639.1:n.452C>A
NM_006194.3:c.150C>A NP_006185.1:p.His50Gln
NM_001372076.1:c.150C>A MANE Select NP_001359005.1:p.His50Gln
NM_006194.4:c.150C>A NP_006185.1:p.His50Gln
Search 100 bp 5'
Search 100 bp 3'