Canonical Allele Identifier: CA2259342103
Gene: PSMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1980546875
gnomAD v3: 17-39987228-C-A
gnomAD v4: 17-39987228-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39987228C>A , CM000679.2:g.39987228C>A GRCh38
NC_000017.10:g.38143481C>A , CM000679.1:g.38143481C>A GRCh37
NC_000017.9:g.35397007C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000264639.9:c.549+516C>A MANE Select ENSP00000264639.4:n.549+516C>A
ENST00000264639.8:c.549+516C>A ENSP00000264639.4:n.549+516C>A
ENST00000415039.7:c.*23+516C>A ENSP00000407410.3:n.*23+516C>A
ENST00000540504.2:c.104+516C>A
ENST00000580980.1:n.29+516C>A
NM_002809.3:c.549+516C>A NP_002800.2:n.549+516C>A
NM_002809.4:c.549+516C>A MANE Select NP_002800.2:n.549+516C>A
Search 100 bp 5'
Search 100 bp 3'