Canonical Allele Identifier: CA7158941
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs104894467
ExAC: 14:37132437 A / C
gnomAD v2: 14-37132437-A-C
gnomAD v3: 14-36663232-A-C
gnomAD v4: 14-36663232-A-C
MyVariant Identifiers: chr14:g.37132437A>C (hg19) chr14:g.36663232A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663232A>C , CM000676.2:g.36663232A>C GRCh38
NC_000014.8:g.37132437A>C , CM000676.1:g.37132437A>C GRCh37
NC_000014.7:g.36202188A>C NCBI36
NG_013357.1:g.10665A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.340A>C MANE Select ENSP00000355245.6:p.Lys114Gln
ENST00000361487.6:c.340A>C ENSP00000355245.6:p.Lys114Gln
ENST00000402703.6:c.340A>C ENSP00000384817.2:p.Lys114Gln
ENST00000554201.1:c.-222A>C ENSP00000450434.1:n.-222A>C
NM_006194.3:c.340A>C NP_006185.1:p.Lys114Gln
NM_001372076.1:c.340A>C MANE Select NP_001359005.1:p.Lys114Gln
NM_006194.4:c.340A>C NP_006185.1:p.Lys114Gln
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