Canonical Allele Identifier: CA7158930
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs768375990
ExAC: 14:37132319 C / T
gnomAD v2: 14-37132319-C-T
gnomAD v3: 14-36663114-C-T
gnomAD v4: 14-36663114-C-T
MyVariant Identifiers: chr14:g.37132319C>T (hg19) chr14:g.36663114C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663114C>T , CM000676.2:g.36663114C>T GRCh38
NC_000014.8:g.37132319C>T , CM000676.1:g.37132319C>T GRCh37
NC_000014.7:g.36202070C>T NCBI36
NG_013357.1:g.10547C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.222C>T MANE Select ENSP00000355245.6:p.Ser74=
ENST00000555639.2:c.222C>T ENSP00000501203.1:p.Ser74=
ENST00000361487.6:c.222C>T ENSP00000355245.6:p.Ser74=
ENST00000402703.6:c.222C>T ENSP00000384817.2:p.Ser74=
ENST00000554201.1:c.-340C>T ENSP00000450434.1:n.-340C>T
ENST00000555639.1:n.524C>T
NM_006194.3:c.222C>T NP_006185.1:p.Ser74=
NM_001372076.1:c.222C>T MANE Select NP_001359005.1:p.Ser74=
NM_006194.4:c.222C>T NP_006185.1:p.Ser74=
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