Canonical Allele Identifier: CA13935067
Gene: PAX9 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.36661540C>T
GRCh37 chr14:g.37130745C>T
gnomAD v2:
14:37130745 C / T
gnomAD v3:
14:36661540 C / T
gnomAD v4:
chr14-36661540-C-T
Joint Max Group AF 0.43752334 (EAS)
Genomes Max Group AF 0.43752334 (EAS)
ClinVar RCV:
RCV001717916
ClinVar Variation:
1291772
dbSNP:
2073247
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36661540C>T , CM000676.2:g.36661540C>T GRCh38
NC_000014.8:g.37130745C>T , CM000676.1:g.37130745C>T GRCh37
NC_000014.7:g.36200496C>T NCBI36
NG_013357.1:g.8973C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555639.2:c.-79-471C>T ENSP00000501203.1:n.-79-471C>T
ENST00000402703.6:c.-393-157C>T ENSP00000384817.2:n.-393-157C>T
ENST00000553267.4:n.334-157C>T
ENST00000555639.1:n.218-465C>T
NM_006194.3:c.-393-157C>T NP_006185.1:n.-393-157C>T
XR_943758.1:n.151G>A
XR_943759.1:n.151G>A
XR_943758.2:n.151G>A
NM_006194.4:c.-393-157C>T NP_006185.1:n.-393-157C>T
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