Canonical Allele Identifier: CA7158988
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs373446060
ExAC: 14:37132628 C / T
gnomAD v2: 14-37132628-C-T
gnomAD v3: 14-36663423-C-T
gnomAD v4: 14-36663423-C-T
MyVariant Identifiers: chr14:g.37132628C>T (hg19) chr14:g.36663423C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663423C>T , CM000676.2:g.36663423C>T GRCh38
NC_000014.8:g.37132628C>T , CM000676.1:g.37132628C>T GRCh37
NC_000014.7:g.36202379C>T NCBI36
NG_013357.1:g.10856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.531C>T MANE Select ENSP00000355245.6:p.Pro177=
ENST00000361487.6:c.531C>T ENSP00000355245.6:p.Pro177=
ENST00000402703.6:c.531C>T ENSP00000384817.2:p.Pro177=
ENST00000554201.1:c.-31C>T ENSP00000450434.1:n.-31C>T
NM_006194.3:c.531C>T NP_006185.1:p.Pro177=
NM_001372076.1:c.531C>T MANE Select NP_001359005.1:p.Pro177=
NM_006194.4:c.531C>T NP_006185.1:p.Pro177=
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