Canonical Allele Identifier: CA400596639

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909315A>C (hg19) ; chr17:g.63831955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831955A>C , CM000679.2:g.63831955A>C	GRCh38
NC_000017.10:g.61909315A>C , CM000679.1:g.61909315A>C	GRCh37
NC_000017.9:g.59263047A>C	NCBI36
NG_053004.1:g.16037T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*404A>C	ENSP00000464347.2:n.*404A>C
ENST00000703608.1:c.*724A>C	ENSP00000515392.1:n.*724A>C
ENST00000703609.1:c.1126A>C	ENSP00000515393.1:p.Lys376Gln
ENST00000703610.1:c.*484A>C	ENSP00000515394.1:n.*484A>C
ENST00000310144.11:c.1207A>C MANE Select	ENSP00000310572.6:p.Lys403Gln
ENST00000310144.10:c.1207A>C	ENSP00000310572.6:p.Lys403Gln
ENST00000375812.8:c.1183A>C	ENSP00000364970.4:p.Lys395Gln
ENST00000578570.5:n.1617A>C
ENST00000579147.5:n.2522A>C
ENST00000580864.5:c.1183A>C	ENSP00000462495.1:p.Lys395Gln
ENST00000581882.5:c.1183A>C	ENSP00000463938.1:p.Lys395Gln
ENST00000584657.1:n.512A>C
ENST00000585242.5:c.*978A>C	ENSP00000463107.1:n.*978A>C
NM_001199163.1:c.1183A>C	NP_001186092.1:p.Lys395Gln
NM_002805.5:c.1207A>C	NP_002796.4:p.Lys403Gln
XM_006721980.1:c.1207A>C	XP_006722043.1:p.Lys403Gln
XR_934508.1:n.1296A>C
XM_024450840.1:c.1288A>C	XP_024306608.1:p.Lys430Gln
XM_024450841.1:c.1264A>C	XP_024306609.1:p.Lys422Gln
XR_934508.2:n.1283A>C
NM_002805.6:c.1207A>C MANE Select	NP_002796.4:p.Lys403Gln
NM_001199163.2:c.1183A>C	NP_001186092.1:p.Lys395Gln