Canonical Allele Identifier: CA258926904
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs756871117
gnomAD v3: 14-36663581-G-A
gnomAD v4: 14-36663581-G-A
MyVariant Identifiers: chr14:g.37132786G>A (hg19) chr14:g.36663581G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663581G>A , CM000676.2:g.36663581G>A GRCh38
NC_000014.8:g.37132786G>A , CM000676.1:g.37132786G>A GRCh37
NC_000014.7:g.36202537G>A NCBI36
NG_013357.1:g.11014G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361487.7:c.631+58G>A MANE Select ENSP00000355245.6:n.631+58G>A
ENST00000361487.6:c.631+58G>A ENSP00000355245.6:n.631+58G>A
ENST00000402703.6:c.631+58G>A ENSP00000384817.2:n.631+58G>A
ENST00000554201.1:c.70+58G>A ENSP00000450434.1:n.70+58G>A
NM_006194.3:c.631+58G>A NP_006185.1:n.631+58G>A
NM_001372076.1:c.631+58G>A MANE Select NP_001359005.1:n.631+58G>A
NM_006194.4:c.631+58G>A NP_006185.1:n.631+58G>A
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