Canonical Allele Identifier: CA389466364
Gene: PAX9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1300262
ClinVar RCV Id: RCV001732238
dbSNP Id: rs1264059790
gnomAD v2: 14-37132315-G-T
gnomAD v4: 14-36663110-G-T
MyVariant Identifiers: chr14:g.37132315G>T (hg19) chr14:g.36663110G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663110G>T , CM000676.2:g.36663110G>T GRCh38
NC_000014.8:g.37132315G>T , CM000676.1:g.37132315G>T GRCh37
NC_000014.7:g.36202066G>T NCBI36
NG_013357.1:g.10543G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.218G>T MANE Select ENSP00000355245.6:p.Gly73Val
ENST00000555639.2:c.218G>T ENSP00000501203.1:p.Gly73Val
ENST00000361487.6:c.218G>T ENSP00000355245.6:p.Gly73Val
ENST00000402703.6:c.218G>T ENSP00000384817.2:p.Gly73Val
ENST00000554201.1:c.-344G>T ENSP00000450434.1:n.-344G>T
ENST00000555639.1:n.520G>T
NM_006194.3:c.218G>T NP_006185.1:p.Gly73Val
NM_001372076.1:c.218G>T MANE Select NP_001359005.1:p.Gly73Val
NM_006194.4:c.218G>T NP_006185.1:p.Gly73Val
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