Canonical Allele Identifier: CA400596598

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909298A>G (hg19) ; chr17:g.63831938A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831938A>G , CM000679.2:g.63831938A>G	GRCh38
NC_000017.10:g.61909298A>G , CM000679.1:g.61909298A>G	GRCh37
NC_000017.9:g.59263030A>G	NCBI36
NG_053004.1:g.16054T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*387A>G	ENSP00000464347.2:n.*387A>G
ENST00000703608.1:c.*707A>G	ENSP00000515392.1:n.*707A>G
ENST00000703609.1:c.1109A>G	ENSP00000515393.1:p.Lys370Arg
ENST00000703610.1:c.*467A>G	ENSP00000515394.1:n.*467A>G
ENST00000310144.11:c.1190A>G MANE Select	ENSP00000310572.6:p.Lys397Arg
ENST00000310144.10:c.1190A>G	ENSP00000310572.6:p.Lys397Arg
ENST00000375812.8:c.1166A>G	ENSP00000364970.4:p.Lys389Arg
ENST00000578570.5:n.1600A>G
ENST00000579147.5:n.2505A>G
ENST00000580864.5:c.1166A>G	ENSP00000462495.1:p.Lys389Arg
ENST00000581882.5:c.1166A>G	ENSP00000463938.1:p.Lys389Arg
ENST00000584657.1:n.495A>G
ENST00000585242.5:c.*961A>G	ENSP00000463107.1:n.*961A>G
NM_001199163.1:c.1166A>G	NP_001186092.1:p.Lys389Arg
NM_002805.5:c.1190A>G	NP_002796.4:p.Lys397Arg
XM_006721980.1:c.1190A>G	XP_006722043.1:p.Lys397Arg
XR_934508.1:n.1279A>G
XM_024450840.1:c.1271A>G	XP_024306608.1:p.Lys424Arg
XM_024450841.1:c.1247A>G	XP_024306609.1:p.Lys416Arg
XR_934508.2:n.1266A>G
NM_002805.6:c.1190A>G MANE Select	NP_002796.4:p.Lys397Arg
NM_001199163.2:c.1166A>G	NP_001186092.1:p.Lys389Arg