Canonical Allele Identifier: CA400596674

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909328G>C (hg19) ; chr17:g.63831968G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831968G>C , CM000679.2:g.63831968G>C	GRCh38
NC_000017.10:g.61909328G>C , CM000679.1:g.61909328G>C	GRCh37
NC_000017.9:g.59263060G>C	NCBI36
NG_053004.1:g.16024C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*417G>C	ENSP00000464347.2:n.*417G>C
ENST00000703608.1:c.*737G>C	ENSP00000515392.1:n.*737G>C
ENST00000703609.1:c.1139G>C	ENSP00000515393.1:p.Ter380Ser
ENST00000703610.1:c.*497G>C	ENSP00000515394.1:n.*497G>C
ENST00000310144.11:c.1220G>C MANE Select	ENSP00000310572.6:p.Ter407Ser
ENST00000310144.10:c.1220G>C	ENSP00000310572.6:p.Ter407Ser
ENST00000375812.8:c.1196G>C	ENSP00000364970.4:p.Ter399Ser
ENST00000578570.5:n.1630G>C
ENST00000579147.5:n.2535G>C
ENST00000580864.5:c.1196G>C	ENSP00000462495.1:p.Ter399Ser
ENST00000581882.5:c.1196G>C	ENSP00000463938.1:p.Ter399Ser
ENST00000584657.1:n.525G>C
ENST00000585242.5:c.*991G>C	ENSP00000463107.1:n.*991G>C
NM_001199163.1:c.1196G>C	NP_001186092.1:p.Ter399Ser
NM_002805.5:c.1220G>C	NP_002796.4:p.Ter407Ser
XM_006721980.1:c.1220G>C	XP_006722043.1:p.Ter407Ser
XR_934508.1:n.1309G>C
XM_024450840.1:c.1301G>C	XP_024306608.1:p.Ter434Ser
XM_024450841.1:c.1277G>C	XP_024306609.1:p.Ter426Ser
XR_934508.2:n.1296G>C
NM_002805.6:c.1220G>C MANE Select	NP_002796.4:p.Ter407Ser
NM_001199163.2:c.1196G>C	NP_001186092.1:p.Ter399Ser