Canonical Allele Identifier: CA8706103

Gene: PSMC5

Linked Data

• dbSNP Id: rs747135885
• ExAC: 17:61909190 T / C
• gnomAD v2: 17-61909190-T-C
• gnomAD v3: 17-63831830-T-C
• gnomAD v4: 17-63831830-T-C
• MyVariant Identifiers: chr17:g.61909190T>C (hg19) ; chr17:g.63831830T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831830T>C , CM000679.2:g.63831830T>C	GRCh38
NC_000017.10:g.61909190T>C , CM000679.1:g.61909190T>C	GRCh37
NC_000017.9:g.59262922T>C	NCBI36
NG_053004.1:g.16162A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*364+20T>C	ENSP00000464347.2:n.*364+20T>C
ENST00000703608.1:c.*684+20T>C	ENSP00000515392.1:n.*684+20T>C
ENST00000703609.1:c.1086+20T>C	ENSP00000515393.1:n.1086+20T>C
ENST00000703610.1:c.*444+20T>C	ENSP00000515394.1:n.*444+20T>C
ENST00000310144.11:c.1167+20T>C MANE Select	ENSP00000310572.6:n.1167+20T>C
ENST00000310144.10:c.1167+20T>C	ENSP00000310572.6:n.1167+20T>C
ENST00000375812.8:c.1143+20T>C	ENSP00000364970.4:n.1143+20T>C
ENST00000578570.5:n.1577+20T>C
ENST00000579147.5:n.2482+20T>C
ENST00000580864.5:c.1143+20T>C	ENSP00000462495.1:n.1143+20T>C
ENST00000581882.5:c.1143+20T>C	ENSP00000463938.1:n.1143+20T>C
ENST00000584657.1:n.472+20T>C
ENST00000585242.5:c.*938+20T>C	ENSP00000463107.1:n.*938+20T>C
NM_001199163.1:c.1143+20T>C	NP_001186092.1:n.1143+20T>C
NM_002805.5:c.1167+20T>C	NP_002796.4:n.1167+20T>C
XM_006721980.1:c.1167+20T>C	XP_006722043.1:n.1167+20T>C
XR_934508.1:n.1256+20T>C
XM_024450840.1:c.1248+20T>C	XP_024306608.1:n.1248+20T>C
XM_024450841.1:c.1224+20T>C	XP_024306609.1:n.1224+20T>C
XR_934508.2:n.1243+20T>C
NM_002805.6:c.1167+20T>C MANE Select	NP_002796.4:n.1167+20T>C
NM_001199163.2:c.1143+20T>C	NP_001186092.1:n.1143+20T>C