Canonical Allele Identifier: CA7158940
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs375546483
ExAC: 14:37132434 G / C
gnomAD v2: 14-37132434-G-C
gnomAD v3: 14-36663229-G-C
gnomAD v4: 14-36663229-G-C
MyVariant Identifiers: chr14:g.37132434G>C (hg19) chr14:g.36663229G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663229G>C , CM000676.2:g.36663229G>C GRCh38
NC_000014.8:g.37132434G>C , CM000676.1:g.37132434G>C GRCh37
NC_000014.7:g.36202185G>C NCBI36
NG_013357.1:g.10662G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.337G>C MANE Select ENSP00000355245.6:p.Asp113His
ENST00000361487.6:c.337G>C ENSP00000355245.6:p.Asp113His
ENST00000402703.6:c.337G>C ENSP00000384817.2:p.Asp113His
ENST00000554201.1:c.-225G>C ENSP00000450434.1:n.-225G>C
NM_006194.3:c.337G>C NP_006185.1:p.Asp113His
NM_001372076.1:c.337G>C MANE Select NP_001359005.1:p.Asp113His
NM_006194.4:c.337G>C NP_006185.1:p.Asp113His
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