Canonical Allele Identifier: CA400596554

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909280T>G (hg19) ; chr17:g.63831920T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831920T>G , CM000679.2:g.63831920T>G	GRCh38
NC_000017.10:g.61909280T>G , CM000679.1:g.61909280T>G	GRCh37
NC_000017.9:g.59263012T>G	NCBI36
NG_053004.1:g.16072A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*369T>G	ENSP00000464347.2:n.*369T>G
ENST00000703608.1:c.*689T>G	ENSP00000515392.1:n.*689T>G
ENST00000703609.1:c.1091T>G	ENSP00000515393.1:p.Met364Arg
ENST00000703610.1:c.*449T>G	ENSP00000515394.1:n.*449T>G
ENST00000310144.11:c.1172T>G MANE Select	ENSP00000310572.6:p.Met391Arg
ENST00000310144.10:c.1172T>G	ENSP00000310572.6:p.Met391Arg
ENST00000375812.8:c.1148T>G	ENSP00000364970.4:p.Met383Arg
ENST00000578570.5:n.1582T>G
ENST00000579147.5:n.2487T>G
ENST00000580864.5:c.1148T>G	ENSP00000462495.1:p.Met383Arg
ENST00000581882.5:c.1148T>G	ENSP00000463938.1:p.Met383Arg
ENST00000584657.1:n.477T>G
ENST00000585242.5:c.*943T>G	ENSP00000463107.1:n.*943T>G
NM_001199163.1:c.1148T>G	NP_001186092.1:p.Met383Arg
NM_002805.5:c.1172T>G	NP_002796.4:p.Met391Arg
XM_006721980.1:c.1172T>G	XP_006722043.1:p.Met391Arg
XR_934508.1:n.1261T>G
XM_024450840.1:c.1253T>G	XP_024306608.1:p.Met418Arg
XM_024450841.1:c.1229T>G	XP_024306609.1:p.Met410Arg
XR_934508.2:n.1248T>G
NM_002805.6:c.1172T>G MANE Select	NP_002796.4:p.Met391Arg
NM_001199163.2:c.1148T>G	NP_001186092.1:p.Met383Arg