Canonical Allele Identifier: CA400596611

Gene: PSMC5

Linked Data

• dbSNP Id: rs1404956738
• gnomAD v3: 17-63831943-A-G
• gnomAD v4: 17-63831943-A-G
• MyVariant Identifiers: chr17:g.61909303A>G (hg19) ; chr17:g.63831943A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831943A>G , CM000679.2:g.63831943A>G	GRCh38
NC_000017.10:g.61909303A>G , CM000679.1:g.61909303A>G	GRCh37
NC_000017.9:g.59263035A>G	NCBI36
NG_053004.1:g.16049T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*392A>G	ENSP00000464347.2:n.*392A>G
ENST00000703608.1:c.*712A>G	ENSP00000515392.1:n.*712A>G
ENST00000703609.1:c.1114A>G	ENSP00000515393.1:p.Met372Val
ENST00000703610.1:c.*472A>G	ENSP00000515394.1:n.*472A>G
ENST00000310144.11:c.1195A>G MANE Select	ENSP00000310572.6:p.Met399Val
ENST00000310144.10:c.1195A>G	ENSP00000310572.6:p.Met399Val
ENST00000375812.8:c.1171A>G	ENSP00000364970.4:p.Met391Val
ENST00000578570.5:n.1605A>G
ENST00000579147.5:n.2510A>G
ENST00000580864.5:c.1171A>G	ENSP00000462495.1:p.Met391Val
ENST00000581882.5:c.1171A>G	ENSP00000463938.1:p.Met391Val
ENST00000584657.1:n.500A>G
ENST00000585242.5:c.*966A>G	ENSP00000463107.1:n.*966A>G
NM_001199163.1:c.1171A>G	NP_001186092.1:p.Met391Val
NM_002805.5:c.1195A>G	NP_002796.4:p.Met399Val
XM_006721980.1:c.1195A>G	XP_006722043.1:p.Met399Val
XR_934508.1:n.1284A>G
XM_024450840.1:c.1276A>G	XP_024306608.1:p.Met426Val
XM_024450841.1:c.1252A>G	XP_024306609.1:p.Met418Val
XR_934508.2:n.1271A>G
NM_002805.6:c.1195A>G MANE Select	NP_002796.4:p.Met399Val
NM_001199163.2:c.1171A>G	NP_001186092.1:p.Met391Val