Canonical Allele Identifier: CA773992888

Gene: PSMC5

Linked Data

• dbSNP Id: rs1409589843
• gnomAD v3: 17-63831979-C-G
• gnomAD v4: 17-63831979-C-G
• MyVariant Identifiers: chr17:g.61909339C>G (hg19) ; chr17:g.63831979C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831979C>G , CM000679.2:g.63831979C>G	GRCh38
NC_000017.10:g.61909339C>G , CM000679.1:g.61909339C>G	GRCh37
NC_000017.9:g.59263071C>G	NCBI36
NG_053004.1:g.16013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*428C>G	ENSP00000464347.2:n.*428C>G
ENST00000703608.1:c.*748C>G	ENSP00000515392.1:n.*748C>G
ENST00000703609.1:c.*10C>G	ENSP00000515393.1:n.*10C>G
ENST00000703610.1:c.*508C>G	ENSP00000515394.1:n.*508C>G
ENST00000310144.11:c.*10C>G MANE Select	ENSP00000310572.6:n.*10C>G
ENST00000310144.10:c.*10C>G	ENSP00000310572.6:n.*10C>G
ENST00000375812.8:c.*10C>G	ENSP00000364970.4:n.*10C>G
ENST00000578570.5:n.1641C>G
ENST00000579147.5:n.2546C>G
ENST00000580864.5:c.*10C>G	ENSP00000462495.1:n.*10C>G
ENST00000581882.5:c.*10C>G	ENSP00000463938.1:n.*10C>G
ENST00000584657.1:n.536C>G
ENST00000585242.5:c.*1002C>G	ENSP00000463107.1:n.*1002C>G
NM_001199163.1:c.*10C>G	NP_001186092.1:n.*10C>G
NM_002805.5:c.*10C>G	NP_002796.4:n.*10C>G
XM_006721980.1:c.*10C>G	XP_006722043.1:n.*10C>G
XR_934508.1:n.1320C>G
XM_024450840.1:c.*10C>G	XP_024306608.1:n.*10C>G
XM_024450841.1:c.*10C>G	XP_024306609.1:n.*10C>G
XR_934508.2:n.1307C>G
NM_002805.6:c.*10C>G MANE Select	NP_002796.4:n.*10C>G
NM_001199163.2:c.*10C>G	NP_001186092.1:n.*10C>G