Canonical Allele Identifier: CA400596575

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909289A>T (hg19) ; chr17:g.63831929A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831929A>T , CM000679.2:g.63831929A>T	GRCh38
NC_000017.10:g.61909289A>T , CM000679.1:g.61909289A>T	GRCh37
NC_000017.9:g.59263021A>T	NCBI36
NG_053004.1:g.16063T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*378A>T	ENSP00000464347.2:n.*378A>T
ENST00000703608.1:c.*698A>T	ENSP00000515392.1:n.*698A>T
ENST00000703609.1:c.1100A>T	ENSP00000515393.1:p.Asp367Val
ENST00000703610.1:c.*458A>T	ENSP00000515394.1:n.*458A>T
ENST00000310144.11:c.1181A>T MANE Select	ENSP00000310572.6:p.Asp394Val
ENST00000310144.10:c.1181A>T	ENSP00000310572.6:p.Asp394Val
ENST00000375812.8:c.1157A>T	ENSP00000364970.4:p.Asp386Val
ENST00000578570.5:n.1591A>T
ENST00000579147.5:n.2496A>T
ENST00000580864.5:c.1157A>T	ENSP00000462495.1:p.Asp386Val
ENST00000581882.5:c.1157A>T	ENSP00000463938.1:p.Asp386Val
ENST00000584657.1:n.486A>T
ENST00000585242.5:c.*952A>T	ENSP00000463107.1:n.*952A>T
NM_001199163.1:c.1157A>T	NP_001186092.1:p.Asp386Val
NM_002805.5:c.1181A>T	NP_002796.4:p.Asp394Val
XM_006721980.1:c.1181A>T	XP_006722043.1:p.Asp394Val
XR_934508.1:n.1270A>T
XM_024450840.1:c.1262A>T	XP_024306608.1:p.Asp421Val
XM_024450841.1:c.1238A>T	XP_024306609.1:p.Asp413Val
XR_934508.2:n.1257A>T
NM_002805.6:c.1181A>T MANE Select	NP_002796.4:p.Asp394Val
NM_001199163.2:c.1157A>T	NP_001186092.1:p.Asp386Val