Canonical Allele Identifier: CA389466637
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1398460057
gnomAD v2: 14-37132443-A-C
gnomAD v4: 14-36663238-A-C
MyVariant Identifiers: chr14:g.37132443A>C (hg19) chr14:g.36663238A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663238A>C , CM000676.2:g.36663238A>C GRCh38
NC_000014.8:g.37132443A>C , CM000676.1:g.37132443A>C GRCh37
NC_000014.7:g.36202194A>C NCBI36
NG_013357.1:g.10671A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.346A>C MANE Select ENSP00000355245.6:p.Asn116His
ENST00000361487.6:c.346A>C ENSP00000355245.6:p.Asn116His
ENST00000402703.6:c.346A>C ENSP00000384817.2:p.Asn116His
ENST00000554201.1:c.-216A>C ENSP00000450434.1:n.-216A>C
NM_006194.3:c.346A>C NP_006185.1:p.Asn116His
NM_001372076.1:c.346A>C MANE Select NP_001359005.1:p.Asn116His
NM_006194.4:c.346A>C NP_006185.1:p.Asn116His
Search 100 bp 5'
Search 100 bp 3'