Canonical Allele Identifier: CA400596650

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909319T>G (hg19) ; chr17:g.63831959T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831959T>G , CM000679.2:g.63831959T>G	GRCh38
NC_000017.10:g.61909319T>G , CM000679.1:g.61909319T>G	GRCh37
NC_000017.9:g.59263051T>G	NCBI36
NG_053004.1:g.16033A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*408T>G	ENSP00000464347.2:n.*408T>G
ENST00000703608.1:c.*728T>G	ENSP00000515392.1:n.*728T>G
ENST00000703609.1:c.1130T>G	ENSP00000515393.1:p.Leu377Ter
ENST00000703610.1:c.*488T>G	ENSP00000515394.1:n.*488T>G
ENST00000310144.11:c.1211T>G MANE Select	ENSP00000310572.6:p.Leu404Ter
ENST00000310144.10:c.1211T>G	ENSP00000310572.6:p.Leu404Ter
ENST00000375812.8:c.1187T>G	ENSP00000364970.4:p.Leu396Ter
ENST00000578570.5:n.1621T>G
ENST00000579147.5:n.2526T>G
ENST00000580864.5:c.1187T>G	ENSP00000462495.1:p.Leu396Ter
ENST00000581882.5:c.1187T>G	ENSP00000463938.1:p.Leu396Ter
ENST00000584657.1:n.516T>G
ENST00000585242.5:c.*982T>G	ENSP00000463107.1:n.*982T>G
NM_001199163.1:c.1187T>G	NP_001186092.1:p.Leu396Ter
NM_002805.5:c.1211T>G	NP_002796.4:p.Leu404Ter
XM_006721980.1:c.1211T>G	XP_006722043.1:p.Leu404Ter
XR_934508.1:n.1300T>G
XM_024450840.1:c.1292T>G	XP_024306608.1:p.Leu431Ter
XM_024450841.1:c.1268T>G	XP_024306609.1:p.Leu423Ter
XR_934508.2:n.1287T>G
NM_002805.6:c.1211T>G MANE Select	NP_002796.4:p.Leu404Ter
NM_001199163.2:c.1187T>G	NP_001186092.1:p.Leu396Ter