Canonical Allele Identifier: CA389467003
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132614G>A (hg19) chr14:g.36663409G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663409G>A , CM000676.2:g.36663409G>A GRCh38
NC_000014.8:g.37132614G>A , CM000676.1:g.37132614G>A GRCh37
NC_000014.7:g.36202365G>A NCBI36
NG_013357.1:g.10842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.517G>A MANE Select ENSP00000355245.6:p.Val173Met
ENST00000361487.6:c.517G>A ENSP00000355245.6:p.Val173Met
ENST00000402703.6:c.517G>A ENSP00000384817.2:p.Val173Met
ENST00000554201.1:c.-45G>A ENSP00000450434.1:n.-45G>A
NM_006194.3:c.517G>A NP_006185.1:p.Val173Met
NM_001372076.1:c.517G>A MANE Select NP_001359005.1:p.Val173Met
NM_006194.4:c.517G>A NP_006185.1:p.Val173Met
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