Canonical Allele Identifier: CA8706141

Gene: PSMC5

Linked Data

• dbSNP Id: rs766673243
• ExAC: 17:61909370 G / A
• gnomAD v2: 17-61909370-G-A
• gnomAD v4: 17-63832010-G-A
• MyVariant Identifiers: chr17:g.61909370G>A (hg19) ; chr17:g.63832010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63832010G>A , CM000679.2:g.63832010G>A	GRCh38
NC_000017.10:g.61909370G>A , CM000679.1:g.61909370G>A	GRCh37
NC_000017.9:g.59263102G>A	NCBI36
NG_053004.1:g.15982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703608.1:c.*779G>A	ENSP00000515392.1:n.*779G>A
ENST00000703609.1:c.*41G>A	ENSP00000515393.1:n.*41G>A
ENST00000310144.11:c.*41G>A MANE Select	ENSP00000310572.6:n.*41G>A
ENST00000310144.10:c.*41G>A	ENSP00000310572.6:n.*41G>A
ENST00000375812.8:c.*41G>A	ENSP00000364970.4:n.*41G>A
ENST00000578570.5:n.1672G>A
ENST00000579147.5:n.2577G>A
ENST00000580864.5:c.*41G>A	ENSP00000462495.1:n.*41G>A
ENST00000584657.1:n.567G>A
NM_001199163.1:c.*41G>A	NP_001186092.1:n.*41G>A
NM_002805.5:c.*41G>A	NP_002796.4:n.*41G>A
XM_006721980.1:c.*41G>A	XP_006722043.1:n.*41G>A
XR_934508.1:n.1351G>A
XM_024450840.1:c.*41G>A	XP_024306608.1:n.*41G>A
XM_024450841.1:c.*41G>A	XP_024306609.1:n.*41G>A
XR_934508.2:n.1338G>A
NM_002805.6:c.*41G>A MANE Select	NP_002796.4:n.*41G>A
NM_001199163.2:c.*41G>A	NP_001186092.1:n.*41G>A