Canonical Allele Identifier: CA626857053

Gene: PSMC5

Linked Data

• dbSNP Id: rs1277854500
• gnomAD v2: 17-61909336-A-C
• MyVariant Identifiers: chr17:g.61909336A>C (hg19) ; chr17:g.63831976A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831976A>C , CM000679.2:g.63831976A>C	GRCh38
NC_000017.10:g.61909336A>C , CM000679.1:g.61909336A>C	GRCh37
NC_000017.9:g.59263068A>C	NCBI36
NG_053004.1:g.16016T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*425A>C	ENSP00000464347.2:n.*425A>C
ENST00000703608.1:c.*745A>C	ENSP00000515392.1:n.*745A>C
ENST00000703609.1:c.*7A>C	ENSP00000515393.1:n.*7A>C
ENST00000703610.1:c.*505A>C	ENSP00000515394.1:n.*505A>C
ENST00000310144.11:c.*7A>C MANE Select	ENSP00000310572.6:n.*7A>C
ENST00000310144.10:c.*7A>C	ENSP00000310572.6:n.*7A>C
ENST00000375812.8:c.*7A>C	ENSP00000364970.4:n.*7A>C
ENST00000578570.5:n.1638A>C
ENST00000579147.5:n.2543A>C
ENST00000580864.5:c.*7A>C	ENSP00000462495.1:n.*7A>C
ENST00000581882.5:c.*7A>C	ENSP00000463938.1:n.*7A>C
ENST00000584657.1:n.533A>C
ENST00000585242.5:c.*999A>C	ENSP00000463107.1:n.*999A>C
NM_001199163.1:c.*7A>C	NP_001186092.1:n.*7A>C
NM_002805.5:c.*7A>C	NP_002796.4:n.*7A>C
XM_006721980.1:c.*7A>C	XP_006722043.1:n.*7A>C
XR_934508.1:n.1317A>C
XM_024450840.1:c.*7A>C	XP_024306608.1:n.*7A>C
XM_024450841.1:c.*7A>C	XP_024306609.1:n.*7A>C
XR_934508.2:n.1304A>C
NM_002805.6:c.*7A>C MANE Select	NP_002796.4:n.*7A>C
NM_001199163.2:c.*7A>C	NP_001186092.1:n.*7A>C