Canonical Allele Identifier: CA400596628

Gene: PSMC5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*399T>C	ENSP00000464347.2:n.*399T>C
ENST00000703608.1:c.*719T>C	ENSP00000515392.1:n.*719T>C
ENST00000703609.1:c.1121T>C	ENSP00000515393.1:p.Ile374Thr
ENST00000703610.1:c.*479T>C	ENSP00000515394.1:n.*479T>C
ENST00000310144.11:c.1202T>C MANE Select	ENSP00000310572.6:p.Ile401Thr
ENST00000310144.10:c.1202T>C	ENSP00000310572.6:p.Ile401Thr
ENST00000375812.8:c.1178T>C	ENSP00000364970.4:p.Ile393Thr
ENST00000578570.5:n.1612T>C
ENST00000579147.5:n.2517T>C
ENST00000580864.5:c.1178T>C	ENSP00000462495.1:p.Ile393Thr
ENST00000581882.5:c.1178T>C	ENSP00000463938.1:p.Ile393Thr
ENST00000584657.1:n.507T>C
ENST00000585242.5:c.*973T>C	ENSP00000463107.1:n.*973T>C
NM_001199163.1:c.1178T>C	NP_001186092.1:p.Ile393Thr
NM_002805.5:c.1202T>C	NP_002796.4:p.Ile401Thr
XM_006721980.1:c.1202T>C	XP_006722043.1:p.Ile401Thr
XR_934508.1:n.1291T>C
XM_024450840.1:c.1283T>C	XP_024306608.1:p.Ile428Thr
XM_024450841.1:c.1259T>C	XP_024306609.1:p.Ile420Thr
XR_934508.2:n.1278T>C
NM_002805.6:c.1202T>C MANE Select	NP_002796.4:p.Ile401Thr
NM_001199163.2:c.1178T>C	NP_001186092.1:p.Ile393Thr