Canonical Allele Identifier: CA2576354250

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63832004-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832004C>A , CM000679.2:g.63832004C>A	GRCh38
NC_000017.10:g.61909364C>A , CM000679.1:g.61909364C>A	GRCh37
NC_000017.9:g.59263096C>A	NCBI36
NG_053004.1:g.15988G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703608.1:c.*773C>A	ENSP00000515392.1:n.*773C>A
ENST00000703609.1:c.*35C>A	ENSP00000515393.1:n.*35C>A
ENST00000310144.11:c.*35C>A MANE Select	ENSP00000310572.6:n.*35C>A
ENST00000310144.10:c.*35C>A	ENSP00000310572.6:n.*35C>A
ENST00000375812.8:c.*35C>A	ENSP00000364970.4:n.*35C>A
ENST00000578570.5:n.1666C>A
ENST00000579147.5:n.2571C>A
ENST00000580864.5:c.*35C>A	ENSP00000462495.1:n.*35C>A
ENST00000584657.1:n.561C>A
NM_001199163.1:c.*35C>A	NP_001186092.1:n.*35C>A
NM_002805.5:c.*35C>A	NP_002796.4:n.*35C>A
XM_006721980.1:c.*35C>A	XP_006722043.1:n.*35C>A
XR_934508.1:n.1345C>A
XM_024450840.1:c.*35C>A	XP_024306608.1:n.*35C>A
XM_024450841.1:c.*35C>A	XP_024306609.1:n.*35C>A
XR_934508.2:n.1332C>A
NM_002805.6:c.*35C>A MANE Select	NP_002796.4:n.*35C>A
NM_001199163.2:c.*35C>A	NP_001186092.1:n.*35C>A