Canonical Allele Identifier: CA258926778
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs987375990
gnomAD v3: 14-36663481-T-C
gnomAD v4: 14-36663481-T-C
MyVariant Identifiers: chr14:g.37132686T>C (hg19) chr14:g.36663481T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663481T>C , CM000676.2:g.36663481T>C GRCh38
NC_000014.8:g.37132686T>C , CM000676.1:g.37132686T>C GRCh37
NC_000014.7:g.36202437T>C NCBI36
NG_013357.1:g.10914T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.589T>C MANE Select ENSP00000355245.6:p.Ser197Pro
ENST00000361487.6:c.589T>C ENSP00000355245.6:p.Ser197Pro
ENST00000402703.6:c.589T>C ENSP00000384817.2:p.Ser197Pro
ENST00000554201.1:c.28T>C ENSP00000450434.1:p.Ser10Pro
NM_006194.3:c.589T>C NP_006185.1:p.Ser197Pro
NM_001372076.1:c.589T>C MANE Select NP_001359005.1:p.Ser197Pro
NM_006194.4:c.589T>C NP_006185.1:p.Ser197Pro
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