Canonical Allele Identifier: CA258926687
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs376393242
gnomAD v4: 14-36663427-G-A
MyVariant Identifiers: chr14:g.37132632G>A (hg19) chr14:g.36663427G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663427G>A , CM000676.2:g.36663427G>A GRCh38
NC_000014.8:g.37132632G>A , CM000676.1:g.37132632G>A GRCh37
NC_000014.7:g.36202383G>A NCBI36
NG_013357.1:g.10860G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.535G>A MANE Select ENSP00000355245.6:p.Val179Met
ENST00000361487.6:c.535G>A ENSP00000355245.6:p.Val179Met
ENST00000402703.6:c.535G>A ENSP00000384817.2:p.Val179Met
ENST00000554201.1:c.-27G>A ENSP00000450434.1:n.-27G>A
NM_006194.3:c.535G>A NP_006185.1:p.Val179Met
NM_001372076.1:c.535G>A MANE Select NP_001359005.1:p.Val179Met
NM_006194.4:c.535G>A NP_006185.1:p.Val179Met
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