Canonical Allele Identifier: CA626857057

Gene: PSMC5

Linked Data

• dbSNP Id: rs1265399685
• gnomAD v2: 17-61909342-T-C
• gnomAD v4: 17-63831982-T-C
• MyVariant Identifiers: chr17:g.61909342T>C (hg19) ; chr17:g.63831982T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831982T>C , CM000679.2:g.63831982T>C	GRCh38
NC_000017.10:g.61909342T>C , CM000679.1:g.61909342T>C	GRCh37
NC_000017.9:g.59263074T>C	NCBI36
NG_053004.1:g.16010A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*431T>C	ENSP00000464347.2:n.*431T>C
ENST00000703608.1:c.*751T>C	ENSP00000515392.1:n.*751T>C
ENST00000703609.1:c.*13T>C	ENSP00000515393.1:n.*13T>C
ENST00000703610.1:c.*511T>C	ENSP00000515394.1:n.*511T>C
ENST00000310144.11:c.*13T>C MANE Select	ENSP00000310572.6:n.*13T>C
ENST00000310144.10:c.*13T>C	ENSP00000310572.6:n.*13T>C
ENST00000375812.8:c.*13T>C	ENSP00000364970.4:n.*13T>C
ENST00000578570.5:n.1644T>C
ENST00000579147.5:n.2549T>C
ENST00000580864.5:c.*13T>C	ENSP00000462495.1:n.*13T>C
ENST00000581882.5:c.*13T>C	ENSP00000463938.1:n.*13T>C
ENST00000584657.1:n.539T>C
ENST00000585242.5:c.*1005T>C	ENSP00000463107.1:n.*1005T>C
NM_001199163.1:c.*13T>C	NP_001186092.1:n.*13T>C
NM_002805.5:c.*13T>C	NP_002796.4:n.*13T>C
XM_006721980.1:c.*13T>C	XP_006722043.1:n.*13T>C
XR_934508.1:n.1323T>C
XM_024450840.1:c.*13T>C	XP_024306608.1:n.*13T>C
XM_024450841.1:c.*13T>C	XP_024306609.1:n.*13T>C
XR_934508.2:n.1310T>C
NM_002805.6:c.*13T>C MANE Select	NP_002796.4:n.*13T>C
NM_001199163.2:c.*13T>C	NP_001186092.1:n.*13T>C