Canonical Allele Identifier: CA400596573

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909288G>C (hg19) ; chr17:g.63831928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831928G>C , CM000679.2:g.63831928G>C	GRCh38
NC_000017.10:g.61909288G>C , CM000679.1:g.61909288G>C	GRCh37
NC_000017.9:g.59263020G>C	NCBI36
NG_053004.1:g.16064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*377G>C	ENSP00000464347.2:n.*377G>C
ENST00000703608.1:c.*697G>C	ENSP00000515392.1:n.*697G>C
ENST00000703609.1:c.1099G>C	ENSP00000515393.1:p.Asp367His
ENST00000703610.1:c.*457G>C	ENSP00000515394.1:n.*457G>C
ENST00000310144.11:c.1180G>C MANE Select	ENSP00000310572.6:p.Asp394His
ENST00000310144.10:c.1180G>C	ENSP00000310572.6:p.Asp394His
ENST00000375812.8:c.1156G>C	ENSP00000364970.4:p.Asp386His
ENST00000578570.5:n.1590G>C
ENST00000579147.5:n.2495G>C
ENST00000580864.5:c.1156G>C	ENSP00000462495.1:p.Asp386His
ENST00000581882.5:c.1156G>C	ENSP00000463938.1:p.Asp386His
ENST00000584657.1:n.485G>C
ENST00000585242.5:c.*951G>C	ENSP00000463107.1:n.*951G>C
NM_001199163.1:c.1156G>C	NP_001186092.1:p.Asp386His
NM_002805.5:c.1180G>C	NP_002796.4:p.Asp394His
XM_006721980.1:c.1180G>C	XP_006722043.1:p.Asp394His
XR_934508.1:n.1269G>C
XM_024450840.1:c.1261G>C	XP_024306608.1:p.Asp421His
XM_024450841.1:c.1237G>C	XP_024306609.1:p.Asp413His
XR_934508.2:n.1256G>C
NM_002805.6:c.1180G>C MANE Select	NP_002796.4:p.Asp394His
NM_001199163.2:c.1156G>C	NP_001186092.1:p.Asp386His