Canonical Allele Identifier: CA501201553

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63831927-G-A
• MyVariant Identifiers: chr17:g.61909287G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831927G>A , CM000679.2:g.63831927G>A	GRCh38
NC_000017.10:g.61909287G>A , CM000679.1:g.61909287G>A	GRCh37
NC_000017.9:g.59263019G>A	NCBI36
NG_053004.1:g.16065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*376G>A	ENSP00000464347.2:n.*376G>A
ENST00000703608.1:c.*696G>A	ENSP00000515392.1:n.*696G>A
ENST00000703609.1:c.1098G>A	ENSP00000515393.1:p.Lys366=
ENST00000703610.1:c.*456G>A	ENSP00000515394.1:n.*456G>A
ENST00000310144.11:c.1179G>A MANE Select	ENSP00000310572.6:p.Lys393=
ENST00000310144.10:c.1179G>A	ENSP00000310572.6:p.Lys393=
ENST00000375812.8:c.1155G>A	ENSP00000364970.4:p.Lys385=
ENST00000578570.5:n.1589G>A
ENST00000579147.5:n.2494G>A
ENST00000580864.5:c.1155G>A	ENSP00000462495.1:p.Lys385=
ENST00000581882.5:c.1155G>A	ENSP00000463938.1:p.Lys385=
ENST00000584657.1:n.484G>A
ENST00000585242.5:c.*950G>A	ENSP00000463107.1:n.*950G>A
NM_001199163.1:c.1155G>A	NP_001186092.1:p.Lys385=
NM_002805.5:c.1179G>A	NP_002796.4:p.Lys393=
XM_006721980.1:c.1179G>A	XP_006722043.1:p.Lys393=
XR_934508.1:n.1268G>A
XM_024450840.1:c.1260G>A	XP_024306608.1:p.Lys420=
XM_024450841.1:c.1236G>A	XP_024306609.1:p.Lys412=
XR_934508.2:n.1255G>A
NM_002805.6:c.1179G>A MANE Select	NP_002796.4:p.Lys393=
NM_001199163.2:c.1155G>A	NP_001186092.1:p.Lys385=