Canonical Allele Identifier: CA400596659

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909322G>T (hg19) ; chr17:g.63831962G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831962G>T , CM000679.2:g.63831962G>T	GRCh38
NC_000017.10:g.61909322G>T , CM000679.1:g.61909322G>T	GRCh37
NC_000017.9:g.59263054G>T	NCBI36
NG_053004.1:g.16030C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*411G>T	ENSP00000464347.2:n.*411G>T
ENST00000703608.1:c.*731G>T	ENSP00000515392.1:n.*731G>T
ENST00000703609.1:c.1133G>T	ENSP00000515393.1:p.Trp378Leu
ENST00000703610.1:c.*491G>T	ENSP00000515394.1:n.*491G>T
ENST00000310144.11:c.1214G>T MANE Select	ENSP00000310572.6:p.Trp405Leu
ENST00000310144.10:c.1214G>T	ENSP00000310572.6:p.Trp405Leu
ENST00000375812.8:c.1190G>T	ENSP00000364970.4:p.Trp397Leu
ENST00000578570.5:n.1624G>T
ENST00000579147.5:n.2529G>T
ENST00000580864.5:c.1190G>T	ENSP00000462495.1:p.Trp397Leu
ENST00000581882.5:c.1190G>T	ENSP00000463938.1:p.Trp397Leu
ENST00000584657.1:n.519G>T
ENST00000585242.5:c.*985G>T	ENSP00000463107.1:n.*985G>T
NM_001199163.1:c.1190G>T	NP_001186092.1:p.Trp397Leu
NM_002805.5:c.1214G>T	NP_002796.4:p.Trp405Leu
XM_006721980.1:c.1214G>T	XP_006722043.1:p.Trp405Leu
XR_934508.1:n.1303G>T
XM_024450840.1:c.1295G>T	XP_024306608.1:p.Trp432Leu
XM_024450841.1:c.1271G>T	XP_024306609.1:p.Trp424Leu
XR_934508.2:n.1290G>T
NM_002805.6:c.1214G>T MANE Select	NP_002796.4:p.Trp405Leu
NM_001199163.2:c.1190G>T	NP_001186092.1:p.Trp397Leu