Canonical Allele Identifier: CA400596545

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63831916-G-T
• MyVariant Identifiers: chr17:g.61909276G>T (hg19) ; chr17:g.63831916G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831916G>T , CM000679.2:g.63831916G>T	GRCh38
NC_000017.10:g.61909276G>T , CM000679.1:g.61909276G>T	GRCh37
NC_000017.9:g.59263008G>T	NCBI36
NG_053004.1:g.16076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*365G>T	ENSP00000464347.2:n.*365G>T
ENST00000703608.1:c.*685G>T	ENSP00000515392.1:n.*685G>T
ENST00000703609.1:c.1087G>T	ENSP00000515393.1:p.Val363Phe
ENST00000703610.1:c.*445G>T	ENSP00000515394.1:n.*445G>T
ENST00000310144.11:c.1168G>T MANE Select	ENSP00000310572.6:p.Val390Phe
ENST00000310144.10:c.1168G>T	ENSP00000310572.6:p.Val390Phe
ENST00000375812.8:c.1144G>T	ENSP00000364970.4:p.Val382Phe
ENST00000578570.5:n.1578G>T
ENST00000579147.5:n.2483G>T
ENST00000580864.5:c.1144G>T	ENSP00000462495.1:p.Val382Phe
ENST00000581882.5:c.1144G>T	ENSP00000463938.1:p.Val382Phe
ENST00000584657.1:n.473G>T
ENST00000585242.5:c.*939G>T	ENSP00000463107.1:n.*939G>T
NM_001199163.1:c.1144G>T	NP_001186092.1:p.Val382Phe
NM_002805.5:c.1168G>T	NP_002796.4:p.Val390Phe
XM_006721980.1:c.1168G>T	XP_006722043.1:p.Val390Phe
XR_934508.1:n.1257G>T
XM_024450840.1:c.1249G>T	XP_024306608.1:p.Val417Phe
XM_024450841.1:c.1225G>T	XP_024306609.1:p.Val409Phe
XR_934508.2:n.1244G>T
NM_002805.6:c.1168G>T MANE Select	NP_002796.4:p.Val390Phe
NM_001199163.2:c.1144G>T	NP_001186092.1:p.Val382Phe