Canonical Allele Identifier: CA400596661

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909323G>C (hg19) ; chr17:g.63831963G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831963G>C , CM000679.2:g.63831963G>C	GRCh38
NC_000017.10:g.61909323G>C , CM000679.1:g.61909323G>C	GRCh37
NC_000017.9:g.59263055G>C	NCBI36
NG_053004.1:g.16029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*412G>C	ENSP00000464347.2:n.*412G>C
ENST00000703608.1:c.*732G>C	ENSP00000515392.1:n.*732G>C
ENST00000703609.1:c.1134G>C	ENSP00000515393.1:p.Trp378Cys
ENST00000703610.1:c.*492G>C	ENSP00000515394.1:n.*492G>C
ENST00000310144.11:c.1215G>C MANE Select	ENSP00000310572.6:p.Trp405Cys
ENST00000310144.10:c.1215G>C	ENSP00000310572.6:p.Trp405Cys
ENST00000375812.8:c.1191G>C	ENSP00000364970.4:p.Trp397Cys
ENST00000578570.5:n.1625G>C
ENST00000579147.5:n.2530G>C
ENST00000580864.5:c.1191G>C	ENSP00000462495.1:p.Trp397Cys
ENST00000581882.5:c.1191G>C	ENSP00000463938.1:p.Trp397Cys
ENST00000584657.1:n.520G>C
ENST00000585242.5:c.*986G>C	ENSP00000463107.1:n.*986G>C
NM_001199163.1:c.1191G>C	NP_001186092.1:p.Trp397Cys
NM_002805.5:c.1215G>C	NP_002796.4:p.Trp405Cys
XM_006721980.1:c.1215G>C	XP_006722043.1:p.Trp405Cys
XR_934508.1:n.1304G>C
XM_024450840.1:c.1296G>C	XP_024306608.1:p.Trp432Cys
XM_024450841.1:c.1272G>C	XP_024306609.1:p.Trp424Cys
XR_934508.2:n.1291G>C
NM_002805.6:c.1215G>C MANE Select	NP_002796.4:p.Trp405Cys
NM_001199163.2:c.1191G>C	NP_001186092.1:p.Trp397Cys