Canonical Allele Identifier: CA2733568415

Gene: PSMD3

Linked Data

• dbSNP Id: rs2144810253

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39987220T>C , CM000679.2:g.39987220T>C	GRCh38
NC_000017.10:g.38143473T>C , CM000679.1:g.38143473T>C	GRCh37
NC_000017.9:g.35396999T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264639.9:c.549+508T>C MANE Select	ENSP00000264639.4:n.549+508T>C
ENST00000264639.8:c.549+508T>C	ENSP00000264639.4:n.549+508T>C
ENST00000415039.7:c.*23+508T>C	ENSP00000407410.3:n.*23+508T>C
ENST00000540504.2:c.104+508T>C
ENST00000580980.1:n.29+508T>C
NM_002809.3:c.549+508T>C	NP_002800.2:n.549+508T>C
NM_002809.4:c.549+508T>C MANE Select	NP_002800.2:n.549+508T>C