Canonical Allele Identifier: CA771900355
Gene: PSMD3 HGNC NCBI

Linked Data

dbSNP Id: rs1175108878
gnomAD v3: 17-39987235-T-C
gnomAD v4: 17-39987235-T-C
MyVariant Identifiers: chr17:g.38143488T>C (hg19) chr17:g.39987235T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39987235T>C , CM000679.2:g.39987235T>C GRCh38
NC_000017.10:g.38143488T>C , CM000679.1:g.38143488T>C GRCh37
NC_000017.9:g.35397014T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264639.9:c.549+523T>C MANE Select ENSP00000264639.4:n.549+523T>C
ENST00000264639.8:c.549+523T>C ENSP00000264639.4:n.549+523T>C
ENST00000415039.7:c.*23+523T>C ENSP00000407410.3:n.*23+523T>C
ENST00000540504.2:c.104+523T>C
ENST00000580980.1:n.29+523T>C
NM_002809.3:c.549+523T>C NP_002800.2:n.549+523T>C
NM_002809.4:c.549+523T>C MANE Select NP_002800.2:n.549+523T>C
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