Canonical Allele Identifier: CA7158999
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs763261408
ExAC: 14:37132668 A / G
gnomAD v2: 14-37132668-A-G
gnomAD v4: 14-36663463-A-G
MyVariant Identifiers: chr14:g.37132668A>G (hg19) chr14:g.36663463A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663463A>G , CM000676.2:g.36663463A>G GRCh38
NC_000014.8:g.37132668A>G , CM000676.1:g.37132668A>G GRCh37
NC_000014.7:g.36202419A>G NCBI36
NG_013357.1:g.10896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.571A>G MANE Select ENSP00000355245.6:p.Thr191Ala
ENST00000361487.6:c.571A>G ENSP00000355245.6:p.Thr191Ala
ENST00000402703.6:c.571A>G ENSP00000384817.2:p.Thr191Ala
ENST00000554201.1:c.10A>G ENSP00000450434.1:p.Thr4Ala
NM_006194.3:c.571A>G NP_006185.1:p.Thr191Ala
NM_001372076.1:c.571A>G MANE Select NP_001359005.1:p.Thr191Ala
NM_006194.4:c.571A>G NP_006185.1:p.Thr191Ala
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