Canonical Allele Identifier: CA7158960
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs750832505
ExAC: 14:37132534 A / C
gnomAD v2: 14-37132534-A-C
gnomAD v4: 14-36663329-A-C
MyVariant Identifiers: chr14:g.37132534A>C (hg19) chr14:g.36663329A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663329A>C , CM000676.2:g.36663329A>C GRCh38
NC_000014.8:g.37132534A>C , CM000676.1:g.37132534A>C GRCh37
NC_000014.7:g.36202285A>C NCBI36
NG_013357.1:g.10762A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.437A>C MANE Select ENSP00000355245.6:p.His146Pro
ENST00000361487.6:c.437A>C ENSP00000355245.6:p.His146Pro
ENST00000402703.6:c.437A>C ENSP00000384817.2:p.His146Pro
ENST00000554201.1:c.-125A>C ENSP00000450434.1:n.-125A>C
NM_006194.3:c.437A>C NP_006185.1:p.His146Pro
NM_001372076.1:c.437A>C MANE Select NP_001359005.1:p.His146Pro
NM_006194.4:c.437A>C NP_006185.1:p.His146Pro
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