Canonical Allele Identifier: CA400596568

Gene: PSMC5

Linked Data

• ClinVar Variation Id: 2495471
• ClinVar RCV Id: RCV004281228
• MyVariant Identifiers: chr17:g.61909286A>G (hg19) ; chr17:g.63831926A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831926A>G , CM000679.2:g.63831926A>G	GRCh38
NC_000017.10:g.61909286A>G , CM000679.1:g.61909286A>G	GRCh37
NC_000017.9:g.59263018A>G	NCBI36
NG_053004.1:g.16066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*375A>G	ENSP00000464347.2:n.*375A>G
ENST00000703608.1:c.*695A>G	ENSP00000515392.1:n.*695A>G
ENST00000703609.1:c.1097A>G	ENSP00000515393.1:p.Lys366Arg
ENST00000703610.1:c.*455A>G	ENSP00000515394.1:n.*455A>G
ENST00000310144.11:c.1178A>G MANE Select	ENSP00000310572.6:p.Lys393Arg
ENST00000310144.10:c.1178A>G	ENSP00000310572.6:p.Lys393Arg
ENST00000375812.8:c.1154A>G	ENSP00000364970.4:p.Lys385Arg
ENST00000578570.5:n.1588A>G
ENST00000579147.5:n.2493A>G
ENST00000580864.5:c.1154A>G	ENSP00000462495.1:p.Lys385Arg
ENST00000581882.5:c.1154A>G	ENSP00000463938.1:p.Lys385Arg
ENST00000584657.1:n.483A>G
ENST00000585242.5:c.*949A>G	ENSP00000463107.1:n.*949A>G
NM_001199163.1:c.1154A>G	NP_001186092.1:p.Lys385Arg
NM_002805.5:c.1178A>G	NP_002796.4:p.Lys393Arg
XM_006721980.1:c.1178A>G	XP_006722043.1:p.Lys393Arg
XR_934508.1:n.1267A>G
XM_024450840.1:c.1259A>G	XP_024306608.1:p.Lys420Arg
XM_024450841.1:c.1235A>G	XP_024306609.1:p.Lys412Arg
XR_934508.2:n.1254A>G
NM_002805.6:c.1178A>G MANE Select	NP_002796.4:p.Lys393Arg
NM_001199163.2:c.1154A>G	NP_001186092.1:p.Lys385Arg