Canonical Allele Identifier: CA389466016
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1247129323
gnomAD v2: 14-37132149-G-T
gnomAD v3: 14-36662944-G-T
gnomAD v4: 14-36662944-G-T
MyVariant Identifiers: chr14:g.37132149G>T (hg19) chr14:g.36662944G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36662944G>T , CM000676.2:g.36662944G>T GRCh38
NC_000014.8:g.37132149G>T , CM000676.1:g.37132149G>T GRCh37
NC_000014.7:g.36201900G>T NCBI36
NG_013357.1:g.10377G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.52G>T MANE Select ENSP00000355245.6:p.Gly18Trp
ENST00000555639.2:c.52G>T ENSP00000501203.1:p.Gly18Trp
ENST00000361487.6:c.52G>T ENSP00000355245.6:p.Gly18Trp
ENST00000402703.6:c.52G>T ENSP00000384817.2:p.Gly18Trp
ENST00000554201.1:c.-510G>T ENSP00000450434.1:n.-510G>T
ENST00000555639.1:n.354G>T
NM_006194.3:c.52G>T NP_006185.1:p.Gly18Trp
NM_001372076.1:c.52G>T MANE Select NP_001359005.1:p.Gly18Trp
NM_006194.4:c.52G>T NP_006185.1:p.Gly18Trp
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