Canonical Allele Identifier: CA400596617

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909305G>A (hg19) ; chr17:g.63831945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831945G>A , CM000679.2:g.63831945G>A	GRCh38
NC_000017.10:g.61909305G>A , CM000679.1:g.61909305G>A	GRCh37
NC_000017.9:g.59263037G>A	NCBI36
NG_053004.1:g.16047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*394G>A	ENSP00000464347.2:n.*394G>A
ENST00000703608.1:c.*714G>A	ENSP00000515392.1:n.*714G>A
ENST00000703609.1:c.1116G>A	ENSP00000515393.1:p.Met372Ile
ENST00000703610.1:c.*474G>A	ENSP00000515394.1:n.*474G>A
ENST00000310144.11:c.1197G>A MANE Select	ENSP00000310572.6:p.Met399Ile
ENST00000310144.10:c.1197G>A	ENSP00000310572.6:p.Met399Ile
ENST00000375812.8:c.1173G>A	ENSP00000364970.4:p.Met391Ile
ENST00000578570.5:n.1607G>A
ENST00000579147.5:n.2512G>A
ENST00000580864.5:c.1173G>A	ENSP00000462495.1:p.Met391Ile
ENST00000581882.5:c.1173G>A	ENSP00000463938.1:p.Met391Ile
ENST00000584657.1:n.502G>A
ENST00000585242.5:c.*968G>A	ENSP00000463107.1:n.*968G>A
NM_001199163.1:c.1173G>A	NP_001186092.1:p.Met391Ile
NM_002805.5:c.1197G>A	NP_002796.4:p.Met399Ile
XM_006721980.1:c.1197G>A	XP_006722043.1:p.Met399Ile
XR_934508.1:n.1286G>A
XM_024450840.1:c.1278G>A	XP_024306608.1:p.Met426Ile
XM_024450841.1:c.1254G>A	XP_024306609.1:p.Met418Ile
XR_934508.2:n.1273G>A
NM_002805.6:c.1197G>A MANE Select	NP_002796.4:p.Met399Ile
NM_001199163.2:c.1173G>A	NP_001186092.1:p.Met391Ile