Canonical Allele Identifier: CA400596627

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909310T>A (hg19) ; chr17:g.63831950T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831950T>A , CM000679.2:g.63831950T>A	GRCh38
NC_000017.10:g.61909310T>A , CM000679.1:g.61909310T>A	GRCh37
NC_000017.9:g.59263042T>A	NCBI36
NG_053004.1:g.16042A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*399T>A	ENSP00000464347.2:n.*399T>A
ENST00000703608.1:c.*719T>A	ENSP00000515392.1:n.*719T>A
ENST00000703609.1:c.1121T>A	ENSP00000515393.1:p.Ile374Asn
ENST00000703610.1:c.*479T>A	ENSP00000515394.1:n.*479T>A
ENST00000310144.11:c.1202T>A MANE Select	ENSP00000310572.6:p.Ile401Asn
ENST00000310144.10:c.1202T>A	ENSP00000310572.6:p.Ile401Asn
ENST00000375812.8:c.1178T>A	ENSP00000364970.4:p.Ile393Asn
ENST00000578570.5:n.1612T>A
ENST00000579147.5:n.2517T>A
ENST00000580864.5:c.1178T>A	ENSP00000462495.1:p.Ile393Asn
ENST00000581882.5:c.1178T>A	ENSP00000463938.1:p.Ile393Asn
ENST00000584657.1:n.507T>A
ENST00000585242.5:c.*973T>A	ENSP00000463107.1:n.*973T>A
NM_001199163.1:c.1178T>A	NP_001186092.1:p.Ile393Asn
NM_002805.5:c.1202T>A	NP_002796.4:p.Ile401Asn
XM_006721980.1:c.1202T>A	XP_006722043.1:p.Ile401Asn
XR_934508.1:n.1291T>A
XM_024450840.1:c.1283T>A	XP_024306608.1:p.Ile428Asn
XM_024450841.1:c.1259T>A	XP_024306609.1:p.Ile420Asn
XR_934508.2:n.1278T>A
NM_002805.6:c.1202T>A MANE Select	NP_002796.4:p.Ile401Asn
NM_001199163.2:c.1178T>A	NP_001186092.1:p.Ile393Asn