Canonical Allele Identifier: CA8706130

Gene: PSMC5

Linked Data

• dbSNP Id: rs376370493
• ExAC: 17:61909333 G / A
• gnomAD v2: 17-61909333-G-A
• gnomAD v3: 17-63831973-G-A
• gnomAD v4: 17-63831973-G-A
• MyVariant Identifiers: chr17:g.61909333G>A (hg19) ; chr17:g.63831973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831973G>A , CM000679.2:g.63831973G>A	GRCh38
NC_000017.10:g.61909333G>A , CM000679.1:g.61909333G>A	GRCh37
NC_000017.9:g.59263065G>A	NCBI36
NG_053004.1:g.16019C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*422G>A	ENSP00000464347.2:n.*422G>A
ENST00000703608.1:c.*742G>A	ENSP00000515392.1:n.*742G>A
ENST00000703609.1:c.*4G>A	ENSP00000515393.1:n.*4G>A
ENST00000703610.1:c.*502G>A	ENSP00000515394.1:n.*502G>A
ENST00000310144.11:c.*4G>A MANE Select	ENSP00000310572.6:n.*4G>A
ENST00000310144.10:c.*4G>A	ENSP00000310572.6:n.*4G>A
ENST00000375812.8:c.*4G>A	ENSP00000364970.4:n.*4G>A
ENST00000578570.5:n.1635G>A
ENST00000579147.5:n.2540G>A
ENST00000580864.5:c.*4G>A	ENSP00000462495.1:n.*4G>A
ENST00000581882.5:c.*4G>A	ENSP00000463938.1:n.*4G>A
ENST00000584657.1:n.530G>A
ENST00000585242.5:c.*996G>A	ENSP00000463107.1:n.*996G>A
NM_001199163.1:c.*4G>A	NP_001186092.1:n.*4G>A
NM_002805.5:c.*4G>A	NP_002796.4:n.*4G>A
XM_006721980.1:c.*4G>A	XP_006722043.1:n.*4G>A
XR_934508.1:n.1314G>A
XM_024450840.1:c.*4G>A	XP_024306608.1:n.*4G>A
XM_024450841.1:c.*4G>A	XP_024306609.1:n.*4G>A
XR_934508.2:n.1301G>A
NM_002805.6:c.*4G>A MANE Select	NP_002796.4:n.*4G>A
NM_001199163.2:c.*4G>A	NP_001186092.1:n.*4G>A