Canonical Allele Identifier: CA400596607

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909301A>T (hg19) ; chr17:g.63831941A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831941A>T , CM000679.2:g.63831941A>T	GRCh38
NC_000017.10:g.61909301A>T , CM000679.1:g.61909301A>T	GRCh37
NC_000017.9:g.59263033A>T	NCBI36
NG_053004.1:g.16051T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*390A>T	ENSP00000464347.2:n.*390A>T
ENST00000703608.1:c.*710A>T	ENSP00000515392.1:n.*710A>T
ENST00000703609.1:c.1112A>T	ENSP00000515393.1:p.Asn371Ile
ENST00000703610.1:c.*470A>T	ENSP00000515394.1:n.*470A>T
ENST00000310144.11:c.1193A>T MANE Select	ENSP00000310572.6:p.Asn398Ile
ENST00000310144.10:c.1193A>T	ENSP00000310572.6:p.Asn398Ile
ENST00000375812.8:c.1169A>T	ENSP00000364970.4:p.Asn390Ile
ENST00000578570.5:n.1603A>T
ENST00000579147.5:n.2508A>T
ENST00000580864.5:c.1169A>T	ENSP00000462495.1:p.Asn390Ile
ENST00000581882.5:c.1169A>T	ENSP00000463938.1:p.Asn390Ile
ENST00000584657.1:n.498A>T
ENST00000585242.5:c.*964A>T	ENSP00000463107.1:n.*964A>T
NM_001199163.1:c.1169A>T	NP_001186092.1:p.Asn390Ile
NM_002805.5:c.1193A>T	NP_002796.4:p.Asn398Ile
XM_006721980.1:c.1193A>T	XP_006722043.1:p.Asn398Ile
XR_934508.1:n.1282A>T
XM_024450840.1:c.1274A>T	XP_024306608.1:p.Asn425Ile
XM_024450841.1:c.1250A>T	XP_024306609.1:p.Asn417Ile
XR_934508.2:n.1269A>T
NM_002805.6:c.1193A>T MANE Select	NP_002796.4:p.Asn398Ile
NM_001199163.2:c.1169A>T	NP_001186092.1:p.Asn390Ile