Canonical Allele Identifier: CA486097958
Gene: PAX9 HGNC NCBI

Linked Data

gnomAD v3: 14-36663387-T-C
gnomAD v4: 14-36663387-T-C
MyVariant Identifiers: chr14:g.37132592T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663387T>C , CM000676.2:g.36663387T>C GRCh38
NC_000014.8:g.37132592T>C , CM000676.1:g.37132592T>C GRCh37
NC_000014.7:g.36202343T>C NCBI36
NG_013357.1:g.10820T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.495T>C MANE Select ENSP00000355245.6:p.Pro165=
ENST00000361487.6:c.495T>C ENSP00000355245.6:p.Pro165=
ENST00000402703.6:c.495T>C ENSP00000384817.2:p.Pro165=
ENST00000554201.1:c.-67T>C ENSP00000450434.1:n.-67T>C
NM_006194.3:c.495T>C NP_006185.1:p.Pro165=
NM_001372076.1:c.495T>C MANE Select NP_001359005.1:p.Pro165=
NM_006194.4:c.495T>C NP_006185.1:p.Pro165=
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