Canonical Allele Identifier: CA400596574

Gene: PSMC5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*378A>C	ENSP00000464347.2:n.*378A>C
ENST00000703608.1:c.*698A>C	ENSP00000515392.1:n.*698A>C
ENST00000703609.1:c.1100A>C	ENSP00000515393.1:p.Asp367Ala
ENST00000703610.1:c.*458A>C	ENSP00000515394.1:n.*458A>C
ENST00000310144.11:c.1181A>C MANE Select	ENSP00000310572.6:p.Asp394Ala
ENST00000310144.10:c.1181A>C	ENSP00000310572.6:p.Asp394Ala
ENST00000375812.8:c.1157A>C	ENSP00000364970.4:p.Asp386Ala
ENST00000578570.5:n.1591A>C
ENST00000579147.5:n.2496A>C
ENST00000580864.5:c.1157A>C	ENSP00000462495.1:p.Asp386Ala
ENST00000581882.5:c.1157A>C	ENSP00000463938.1:p.Asp386Ala
ENST00000584657.1:n.486A>C
ENST00000585242.5:c.*952A>C	ENSP00000463107.1:n.*952A>C
NM_001199163.1:c.1157A>C	NP_001186092.1:p.Asp386Ala
NM_002805.5:c.1181A>C	NP_002796.4:p.Asp394Ala
XM_006721980.1:c.1181A>C	XP_006722043.1:p.Asp394Ala
XR_934508.1:n.1270A>C
XM_024450840.1:c.1262A>C	XP_024306608.1:p.Asp421Ala
XM_024450841.1:c.1238A>C	XP_024306609.1:p.Asp413Ala
XR_934508.2:n.1257A>C
NM_002805.6:c.1181A>C MANE Select	NP_002796.4:p.Asp394Ala
NM_001199163.2:c.1157A>C	NP_001186092.1:p.Asp386Ala