Canonical Allele Identifier: CA486097748
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132448G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663243G>C , CM000676.2:g.36663243G>C GRCh38
NC_000014.8:g.37132448G>C , CM000676.1:g.37132448G>C GRCh37
NC_000014.7:g.36202199G>C NCBI36
NG_013357.1:g.10676G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.351G>C MANE Select ENSP00000355245.6:p.Val117=
ENST00000361487.6:c.351G>C ENSP00000355245.6:p.Val117=
ENST00000402703.6:c.351G>C ENSP00000384817.2:p.Val117=
ENST00000554201.1:c.-211G>C ENSP00000450434.1:n.-211G>C
NM_006194.3:c.351G>C NP_006185.1:p.Val117=
NM_001372076.1:c.351G>C MANE Select NP_001359005.1:p.Val117=
NM_006194.4:c.351G>C NP_006185.1:p.Val117=