Canonical Allele Identifier: CA7158933
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs766415264
ExAC: 14:37132379 C / A
gnomAD v2: 14-37132379-C-A
gnomAD v3: 14-36663174-C-A
gnomAD v4: 14-36663174-C-A
MyVariant Identifiers: chr14:g.37132379C>A (hg19) chr14:g.36663174C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663174C>A , CM000676.2:g.36663174C>A GRCh38
NC_000014.8:g.37132379C>A , CM000676.1:g.37132379C>A GRCh37
NC_000014.7:g.36202130C>A NCBI36
NG_013357.1:g.10607C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.282C>A MANE Select ENSP00000355245.6:p.Asp94Glu
ENST00000361487.6:c.282C>A ENSP00000355245.6:p.Asp94Glu
ENST00000402703.6:c.282C>A ENSP00000384817.2:p.Asp94Glu
ENST00000554201.1:c.-280C>A ENSP00000450434.1:n.-280C>A
NM_006194.3:c.282C>A NP_006185.1:p.Asp94Glu
NM_001372076.1:c.282C>A MANE Select NP_001359005.1:p.Asp94Glu
NM_006194.4:c.282C>A NP_006185.1:p.Asp94Glu
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