Canonical Allele Identifier: CA389467142
Gene: PAX9 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.37132687C>T (hg19) chr14:g.36663482C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663482C>T , CM000676.2:g.36663482C>T GRCh38
NC_000014.8:g.37132687C>T , CM000676.1:g.37132687C>T GRCh37
NC_000014.7:g.36202438C>T NCBI36
NG_013357.1:g.10915C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000361487.7:c.590C>T MANE Select ENSP00000355245.6:p.Ser197Phe
ENST00000361487.6:c.590C>T ENSP00000355245.6:p.Ser197Phe
ENST00000402703.6:c.590C>T ENSP00000384817.2:p.Ser197Phe
ENST00000554201.1:c.29C>T ENSP00000450434.1:p.Ser10Phe
NM_006194.3:c.590C>T NP_006185.1:p.Ser197Phe
NM_001372076.1:c.590C>T MANE Select NP_001359005.1:p.Ser197Phe
NM_006194.4:c.590C>T NP_006185.1:p.Ser197Phe
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