Canonical Allele Identifier: CA8706106

Gene: PSMC5

Linked Data

• dbSNP Id: rs762047664
• ExAC: 17:61909208 C / T
• gnomAD v2: 17-61909208-C-T
• gnomAD v3: 17-63831848-C-T
• gnomAD v4: 17-63831848-C-T
• MyVariant Identifiers: chr17:g.61909208C>T (hg19) ; chr17:g.63831848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831848C>T , CM000679.2:g.63831848C>T	GRCh38
NC_000017.10:g.61909208C>T , CM000679.1:g.61909208C>T	GRCh37
NC_000017.9:g.59262940C>T	NCBI36
NG_053004.1:g.16144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*364+38C>T	ENSP00000464347.2:n.*364+38C>T
ENST00000703608.1:c.*684+38C>T	ENSP00000515392.1:n.*684+38C>T
ENST00000703609.1:c.1086+38C>T	ENSP00000515393.1:n.1086+38C>T
ENST00000703610.1:c.*444+38C>T	ENSP00000515394.1:n.*444+38C>T
ENST00000310144.11:c.1167+38C>T MANE Select	ENSP00000310572.6:n.1167+38C>T
ENST00000310144.10:c.1167+38C>T	ENSP00000310572.6:n.1167+38C>T
ENST00000375812.8:c.1143+38C>T	ENSP00000364970.4:n.1143+38C>T
ENST00000578570.5:n.1577+38C>T
ENST00000579147.5:n.2482+38C>T
ENST00000580864.5:c.1143+38C>T	ENSP00000462495.1:n.1143+38C>T
ENST00000581882.5:c.1143+38C>T	ENSP00000463938.1:n.1143+38C>T
ENST00000584657.1:n.472+38C>T
ENST00000585242.5:c.*938+38C>T	ENSP00000463107.1:n.*938+38C>T
NM_001199163.1:c.1143+38C>T	NP_001186092.1:n.1143+38C>T
NM_002805.5:c.1167+38C>T	NP_002796.4:n.1167+38C>T
XM_006721980.1:c.1167+38C>T	XP_006722043.1:n.1167+38C>T
XR_934508.1:n.1256+38C>T
XM_024450840.1:c.1248+38C>T	XP_024306608.1:n.1248+38C>T
XM_024450841.1:c.1224+38C>T	XP_024306609.1:n.1224+38C>T
XR_934508.2:n.1243+38C>T
NM_002805.6:c.1167+38C>T MANE Select	NP_002796.4:n.1167+38C>T
NM_001199163.2:c.1143+38C>T	NP_001186092.1:n.1143+38C>T