Canonical Allele Identifier: CA486097902
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1225830876
gnomAD v2: 14-37132547-G-A
gnomAD v4: 14-36663342-G-A
MyVariant Identifiers: chr14:g.37132547G>A (hg19) chr14:g.36663342G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663342G>A , CM000676.2:g.36663342G>A GRCh38
NC_000014.8:g.37132547G>A , CM000676.1:g.37132547G>A GRCh37
NC_000014.7:g.36202298G>A NCBI36
NG_013357.1:g.10775G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.450G>A MANE Select ENSP00000355245.6:p.Pro150=
ENST00000361487.6:c.450G>A ENSP00000355245.6:p.Pro150=
ENST00000402703.6:c.450G>A ENSP00000384817.2:p.Pro150=
ENST00000554201.1:c.-112G>A ENSP00000450434.1:n.-112G>A
NM_006194.3:c.450G>A NP_006185.1:p.Pro150=
NM_001372076.1:c.450G>A MANE Select NP_001359005.1:p.Pro150=
NM_006194.4:c.450G>A NP_006185.1:p.Pro150=
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