Canonical Allele Identifier: CA2639297896

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63831996-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831996C>A , CM000679.2:g.63831996C>A	GRCh38
NC_000017.10:g.61909356C>A , CM000679.1:g.61909356C>A	GRCh37
NC_000017.9:g.59263088C>A	NCBI36
NG_053004.1:g.15996G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*445C>A	ENSP00000464347.2:n.*445C>A
ENST00000703608.1:c.*765C>A	ENSP00000515392.1:n.*765C>A
ENST00000703609.1:c.*27C>A	ENSP00000515393.1:n.*27C>A
ENST00000310144.11:c.*27C>A MANE Select	ENSP00000310572.6:n.*27C>A
ENST00000310144.10:c.*27C>A	ENSP00000310572.6:n.*27C>A
ENST00000375812.8:c.*27C>A	ENSP00000364970.4:n.*27C>A
ENST00000578570.5:n.1658C>A
ENST00000579147.5:n.2563C>A
ENST00000580864.5:c.*27C>A	ENSP00000462495.1:n.*27C>A
ENST00000584657.1:n.553C>A
NM_001199163.1:c.*27C>A	NP_001186092.1:n.*27C>A
NM_002805.5:c.*27C>A	NP_002796.4:n.*27C>A
XM_006721980.1:c.*27C>A	XP_006722043.1:n.*27C>A
XR_934508.1:n.1337C>A
XM_024450840.1:c.*27C>A	XP_024306608.1:n.*27C>A
XM_024450841.1:c.*27C>A	XP_024306609.1:n.*27C>A
XR_934508.2:n.1324C>A
NM_002805.6:c.*27C>A MANE Select	NP_002796.4:n.*27C>A
NM_001199163.2:c.*27C>A	NP_001186092.1:n.*27C>A