Canonical Allele Identifier: CA258926224
Gene: PAX9 HGNC NCBI

Linked Data

dbSNP Id: rs1031750416
gnomAD v3: 14-36663165-G-A
gnomAD v4: 14-36663165-G-A
MyVariant Identifiers: chr14:g.37132370G>A (hg19) chr14:g.36663165G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.36663165G>A , CM000676.2:g.36663165G>A GRCh38
NC_000014.8:g.37132370G>A , CM000676.1:g.37132370G>A GRCh37
NC_000014.7:g.36202121G>A NCBI36
NG_013357.1:g.10598G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361487.7:c.273G>A MANE Select ENSP00000355245.6:p.Lys91=
ENST00000361487.6:c.273G>A ENSP00000355245.6:p.Lys91=
ENST00000402703.6:c.273G>A ENSP00000384817.2:p.Lys91=
ENST00000554201.1:c.-289G>A ENSP00000450434.1:n.-289G>A
NM_006194.3:c.273G>A NP_006185.1:p.Lys91=
NM_001372076.1:c.273G>A MANE Select NP_001359005.1:p.Lys91=
NM_006194.4:c.273G>A NP_006185.1:p.Lys91=
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