Canonical Allele Identifier: CA389466459
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1428496379
gnomAD v2: 14-37132360-G-A
gnomAD v4: 14-36663155-G-A
MyVariant Identifiers: chr14:g.37132360G>A (hg19) chr14:g.36663155G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663155G>A , CM000676.2:g.36663155G>A GRCh38
NC_000014.8:g.37132360G>A , CM000676.1:g.37132360G>A GRCh37
NC_000014.7:g.36202111G>A NCBI36
NG_013357.1:g.10588G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.263G>A MANE Select ENSP00000355245.6:p.Arg88Gln
ENST00000361487.6:c.263G>A ENSP00000355245.6:p.Arg88Gln
ENST00000402703.6:c.263G>A ENSP00000384817.2:p.Arg88Gln
ENST00000554201.1:c.-299G>A ENSP00000450434.1:n.-299G>A
NM_006194.3:c.263G>A NP_006185.1:p.Arg88Gln
NM_001372076.1:c.263G>A MANE Select NP_001359005.1:p.Arg88Gln
NM_006194.4:c.263G>A NP_006185.1:p.Arg88Gln
Search 100 bp 5'
Search 100 bp 3'