Canonical Allele Identifier: CA389466197
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064705
ClinVar RCV Id: RCV001374730
dbSNP Id: rs1881341880
MyVariant Identifiers: chr14:g.37132237G>C (hg19) chr14:g.36663032G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663032G>C , CM000676.2:g.36663032G>C GRCh38
NC_000014.8:g.37132237G>C , CM000676.1:g.37132237G>C GRCh37
NC_000014.7:g.36201988G>C NCBI36
NG_013357.1:g.10465G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.140G>C MANE Select ENSP00000355245.6:p.Arg47Pro
ENST00000555639.2:c.140G>C ENSP00000501203.1:p.Arg47Pro
ENST00000361487.6:c.140G>C ENSP00000355245.6:p.Arg47Pro
ENST00000402703.6:c.140G>C ENSP00000384817.2:p.Arg47Pro
ENST00000554201.1:c.-422G>C ENSP00000450434.1:n.-422G>C
ENST00000555639.1:n.442G>C
NM_006194.3:c.140G>C NP_006185.1:p.Arg47Pro
NM_001372076.1:c.140G>C MANE Select NP_001359005.1:p.Arg47Pro
NM_006194.4:c.140G>C NP_006185.1:p.Arg47Pro
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