Canonical Allele Identifier: CA8706131

Gene: PSMC5

Linked Data

• dbSNP Id: rs760712633
• ExAC: 17:61909338 C / A
• gnomAD v2: 17-61909338-C-A
• gnomAD v3: 17-63831978-C-A
• gnomAD v4: 17-63831978-C-A
• MyVariant Identifiers: chr17:g.61909338C>A (hg19) ; chr17:g.63831978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831978C>A , CM000679.2:g.63831978C>A	GRCh38
NC_000017.10:g.61909338C>A , CM000679.1:g.61909338C>A	GRCh37
NC_000017.9:g.59263070C>A	NCBI36
NG_053004.1:g.16014G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*427C>A	ENSP00000464347.2:n.*427C>A
ENST00000703608.1:c.*747C>A	ENSP00000515392.1:n.*747C>A
ENST00000703609.1:c.*9C>A	ENSP00000515393.1:n.*9C>A
ENST00000703610.1:c.*507C>A	ENSP00000515394.1:n.*507C>A
ENST00000310144.11:c.*9C>A MANE Select	ENSP00000310572.6:n.*9C>A
ENST00000310144.10:c.*9C>A	ENSP00000310572.6:n.*9C>A
ENST00000375812.8:c.*9C>A	ENSP00000364970.4:n.*9C>A
ENST00000578570.5:n.1640C>A
ENST00000579147.5:n.2545C>A
ENST00000580864.5:c.*9C>A	ENSP00000462495.1:n.*9C>A
ENST00000581882.5:c.*9C>A	ENSP00000463938.1:n.*9C>A
ENST00000584657.1:n.535C>A
ENST00000585242.5:c.*1001C>A	ENSP00000463107.1:n.*1001C>A
NM_001199163.1:c.*9C>A	NP_001186092.1:n.*9C>A
NM_002805.5:c.*9C>A	NP_002796.4:n.*9C>A
XM_006721980.1:c.*9C>A	XP_006722043.1:n.*9C>A
XR_934508.1:n.1319C>A
XM_024450840.1:c.*9C>A	XP_024306608.1:n.*9C>A
XM_024450841.1:c.*9C>A	XP_024306609.1:n.*9C>A
XR_934508.2:n.1306C>A
NM_002805.6:c.*9C>A MANE Select	NP_002796.4:n.*9C>A
NM_001199163.2:c.*9C>A	NP_001186092.1:n.*9C>A