Canonical Allele Identifier: CA486097673
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1881349949
gnomAD v3: 14-36663199-C-A
gnomAD v4: 14-36663199-C-A
MyVariant Identifiers: chr14:g.37132404C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663199C>A , CM000676.2:g.36663199C>A GRCh38
NC_000014.8:g.37132404C>A , CM000676.1:g.37132404C>A GRCh37
NC_000014.7:g.36202155C>A NCBI36
NG_013357.1:g.10632C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.307C>A MANE Select ENSP00000355245.6:p.Arg103=
ENST00000361487.6:c.307C>A ENSP00000355245.6:p.Arg103=
ENST00000402703.6:c.307C>A ENSP00000384817.2:p.Arg103=
ENST00000554201.1:c.-255C>A ENSP00000450434.1:n.-255C>A
NM_006194.3:c.307C>A NP_006185.1:p.Arg103=
NM_001372076.1:c.307C>A MANE Select NP_001359005.1:p.Arg103=
NM_006194.4:c.307C>A NP_006185.1:p.Arg103=
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