Canonical Allele Identifier: CA8706135

Gene: PSMC5

Linked Data

• dbSNP Id: rs1002429741
• ExAC: 17:61909349 A / C
• gnomAD v2: 17-61909349-A-C
• gnomAD v3: 17-63831989-A-C
• gnomAD v4: 17-63831989-A-C
• MyVariant Identifiers: chr17:g.61909349A>C (hg19) ; chr17:g.61909349_61909351delinsCTC (hg19) ; chr17:g.63831989A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831989A>C , CM000679.2:g.63831989A>C	GRCh38
NC_000017.10:g.61909349A>C , CM000679.1:g.61909349A>C	GRCh37
NC_000017.9:g.59263081A>C	NCBI36
NG_053004.1:g.16003T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*438A>C	ENSP00000464347.2:n.*438A>C
ENST00000703608.1:c.*758A>C	ENSP00000515392.1:n.*758A>C
ENST00000703609.1:c.*20A>C	ENSP00000515393.1:n.*20A>C
ENST00000703610.1:c.*518A>C	ENSP00000515394.1:n.*518A>C
ENST00000310144.11:c.*20A>C MANE Select	ENSP00000310572.6:n.*20A>C
ENST00000310144.10:c.*20A>C	ENSP00000310572.6:n.*20A>C
ENST00000375812.8:c.*20A>C	ENSP00000364970.4:n.*20A>C
ENST00000578570.5:n.1651A>C
ENST00000579147.5:n.2556A>C
ENST00000580864.5:c.*20A>C	ENSP00000462495.1:n.*20A>C
ENST00000584657.1:n.546A>C
NM_001199163.1:c.*20A>C	NP_001186092.1:n.*20A>C
NM_002805.5:c.*20A>C	NP_002796.4:n.*20A>C
XM_006721980.1:c.*20A>C	XP_006722043.1:n.*20A>C
XR_934508.1:n.1330A>C
XM_024450840.1:c.*20A>C	XP_024306608.1:n.*20A>C
XM_024450841.1:c.*20A>C	XP_024306609.1:n.*20A>C
XR_934508.2:n.1317A>C
NM_002805.6:c.*20A>C MANE Select	NP_002796.4:n.*20A>C
NM_001199163.2:c.*20A>C	NP_001186092.1:n.*20A>C