Canonical Allele Identifier: CA7158947
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs768500570
ExAC: 14:37132467 A / G
gnomAD v2: 14-37132467-A-G
gnomAD v4: 14-36663262-A-G
MyVariant Identifiers: chr14:g.37132467A>G (hg19) chr14:g.36663262A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663262A>G , CM000676.2:g.36663262A>G GRCh38
NC_000014.8:g.37132467A>G , CM000676.1:g.37132467A>G GRCh37
NC_000014.7:g.36202218A>G NCBI36
NG_013357.1:g.10695A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.370A>G MANE Select ENSP00000355245.6:p.Ser124Gly
ENST00000361487.6:c.370A>G ENSP00000355245.6:p.Ser124Gly
ENST00000402703.6:c.370A>G ENSP00000384817.2:p.Ser124Gly
ENST00000554201.1:c.-192A>G ENSP00000450434.1:n.-192A>G
NM_006194.3:c.370A>G NP_006185.1:p.Ser124Gly
NM_001372076.1:c.370A>G MANE Select NP_001359005.1:p.Ser124Gly
NM_006194.4:c.370A>G NP_006185.1:p.Ser124Gly
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