Canonical Allele Identifier: CA486097161
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132145G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36662940G>C , CM000676.2:g.36662940G>C GRCh38
NC_000014.8:g.37132145G>C , CM000676.1:g.37132145G>C GRCh37
NC_000014.7:g.36201896G>C NCBI36
NG_013357.1:g.10373G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.48G>C MANE Select ENSP00000355245.6:p.Val16=
ENST00000555639.2:c.48G>C ENSP00000501203.1:p.Val16=
ENST00000361487.6:c.48G>C ENSP00000355245.6:p.Val16=
ENST00000402703.6:c.48G>C ENSP00000384817.2:p.Val16=
ENST00000554201.1:c.-514G>C ENSP00000450434.1:n.-514G>C
ENST00000555639.1:n.350G>C
NM_006194.3:c.48G>C NP_006185.1:p.Val16=
NM_001372076.1:c.48G>C MANE Select NP_001359005.1:p.Val16=
NM_006194.4:c.48G>C NP_006185.1:p.Val16=