Canonical Allele Identifier: CA2270102949

Gene: PSMC5

Linked Data

• dbSNP Id: rs2040195691
• gnomAD v4: 17-63831984-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831984T>G , CM000679.2:g.63831984T>G	GRCh38
NC_000017.10:g.61909344T>G , CM000679.1:g.61909344T>G	GRCh37
NC_000017.9:g.59263076T>G	NCBI36
NG_053004.1:g.16008A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*433T>G	ENSP00000464347.2:n.*433T>G
ENST00000703608.1:c.*753T>G	ENSP00000515392.1:n.*753T>G
ENST00000703609.1:c.*15T>G	ENSP00000515393.1:n.*15T>G
ENST00000703610.1:c.*513T>G	ENSP00000515394.1:n.*513T>G
ENST00000310144.11:c.*15T>G MANE Select	ENSP00000310572.6:n.*15T>G
ENST00000310144.10:c.*15T>G	ENSP00000310572.6:n.*15T>G
ENST00000375812.8:c.*15T>G	ENSP00000364970.4:n.*15T>G
ENST00000578570.5:n.1646T>G
ENST00000579147.5:n.2551T>G
ENST00000580864.5:c.*15T>G	ENSP00000462495.1:n.*15T>G
ENST00000581882.5:c.*15T>G	ENSP00000463938.1:n.*15T>G
ENST00000584657.1:n.541T>G
ENST00000585242.5:c.*1007T>G	ENSP00000463107.1:n.*1007T>G
NM_001199163.1:c.*15T>G	NP_001186092.1:n.*15T>G
NM_002805.5:c.*15T>G	NP_002796.4:n.*15T>G
XM_006721980.1:c.*15T>G	XP_006722043.1:n.*15T>G
XR_934508.1:n.1325T>G
XM_024450840.1:c.*15T>G	XP_024306608.1:n.*15T>G
XM_024450841.1:c.*15T>G	XP_024306609.1:n.*15T>G
XR_934508.2:n.1312T>G
NM_002805.6:c.*15T>G MANE Select	NP_002796.4:n.*15T>G
NM_001199163.2:c.*15T>G	NP_001186092.1:n.*15T>G