Canonical Allele Identifier: CA400596629

Gene: PSMC5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*399T>G	ENSP00000464347.2:n.*399T>G
ENST00000703608.1:c.*719T>G	ENSP00000515392.1:n.*719T>G
ENST00000703609.1:c.1121T>G	ENSP00000515393.1:p.Ile374Ser
ENST00000703610.1:c.*479T>G	ENSP00000515394.1:n.*479T>G
ENST00000310144.11:c.1202T>G MANE Select	ENSP00000310572.6:p.Ile401Ser
ENST00000310144.10:c.1202T>G	ENSP00000310572.6:p.Ile401Ser
ENST00000375812.8:c.1178T>G	ENSP00000364970.4:p.Ile393Ser
ENST00000578570.5:n.1612T>G
ENST00000579147.5:n.2517T>G
ENST00000580864.5:c.1178T>G	ENSP00000462495.1:p.Ile393Ser
ENST00000581882.5:c.1178T>G	ENSP00000463938.1:p.Ile393Ser
ENST00000584657.1:n.507T>G
ENST00000585242.5:c.*973T>G	ENSP00000463107.1:n.*973T>G
NM_001199163.1:c.1178T>G	NP_001186092.1:p.Ile393Ser
NM_002805.5:c.1202T>G	NP_002796.4:p.Ile401Ser
XM_006721980.1:c.1202T>G	XP_006722043.1:p.Ile401Ser
XR_934508.1:n.1291T>G
XM_024450840.1:c.1283T>G	XP_024306608.1:p.Ile428Ser
XM_024450841.1:c.1259T>G	XP_024306609.1:p.Ile420Ser
XR_934508.2:n.1278T>G
NM_002805.6:c.1202T>G MANE Select	NP_002796.4:p.Ile401Ser
NM_001199163.2:c.1178T>G	NP_001186092.1:p.Ile393Ser