Canonical Allele Identifier: CA400596543
Gene: PSMC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63831915G>C , CM000679.2:g.63831915G>C GRCh38
NC_000017.10:g.61909275G>C , CM000679.1:g.61909275G>C GRCh37
NC_000017.9:g.59263007G>C NCBI36
NG_053004.1:g.16077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000584880.6:c.*365-1G>C ENSP00000464347.2:n.*365-1G>C
ENST00000703608.1:c.*685-1G>C ENSP00000515392.1:n.*685-1G>C
ENST00000703609.1:c.1087-1G>C ENSP00000515393.1:n.1087-1G>C
ENST00000703610.1:c.*445-1G>C ENSP00000515394.1:n.*445-1G>C
ENST00000310144.11:c.1168-1G>C MANE Select ENSP00000310572.6:n.1168-1G>C
ENST00000310144.10:c.1168-1G>C ENSP00000310572.6:n.1168-1G>C
ENST00000375812.8:c.1144-1G>C ENSP00000364970.4:n.1144-1G>C
ENST00000578570.5:n.1578-1G>C
ENST00000579147.5:n.2483-1G>C
ENST00000580864.5:c.1144-1G>C ENSP00000462495.1:n.1144-1G>C
ENST00000581882.5:c.1144-1G>C ENSP00000463938.1:n.1144-1G>C
ENST00000584657.1:n.473-1G>C
ENST00000585242.5:c.*939-1G>C ENSP00000463107.1:n.*939-1G>C
NM_001199163.1:c.1144-1G>C NP_001186092.1:n.1144-1G>C
NM_002805.5:c.1168-1G>C NP_002796.4:n.1168-1G>C
XM_006721980.1:c.1168-1G>C XP_006722043.1:n.1168-1G>C
XR_934508.1:n.1257-1G>C
XM_024450840.1:c.1249-1G>C XP_024306608.1:n.1249-1G>C
XM_024450841.1:c.1225-1G>C XP_024306609.1:n.1225-1G>C
XR_934508.2:n.1244-1G>C
NM_002805.6:c.1168-1G>C MANE Select NP_002796.4:n.1168-1G>C
NM_001199163.2:c.1144-1G>C NP_001186092.1:n.1144-1G>C