Canonical Allele Identifier: CA486097782
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1295213048
gnomAD v4: 14-36663261-C-T
MyVariant Identifiers: chr14:g.37132466C>T (hg19) chr14:g.36663261C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663261C>T , CM000676.2:g.36663261C>T GRCh38
NC_000014.8:g.37132466C>T , CM000676.1:g.37132466C>T GRCh37
NC_000014.7:g.36202217C>T NCBI36
NG_013357.1:g.10694C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.369C>T MANE Select ENSP00000355245.6:p.Ile123=
ENST00000361487.6:c.369C>T ENSP00000355245.6:p.Ile123=
ENST00000402703.6:c.369C>T ENSP00000384817.2:p.Ile123=
ENST00000554201.1:c.-193C>T ENSP00000450434.1:n.-193C>T
NM_006194.3:c.369C>T NP_006185.1:p.Ile123=
NM_001372076.1:c.369C>T MANE Select NP_001359005.1:p.Ile123=
NM_006194.4:c.369C>T NP_006185.1:p.Ile123=
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