Canonical Allele Identifier: CA400596612
Gene: PSMC5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63831943A>T , CM000679.2:g.63831943A>T GRCh38
NC_000017.10:g.61909303A>T , CM000679.1:g.61909303A>T GRCh37
NC_000017.9:g.59263035A>T NCBI36
NG_053004.1:g.16049T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584880.6:c.*392A>T ENSP00000464347.2:n.*392A>T
ENST00000703608.1:c.*712A>T ENSP00000515392.1:n.*712A>T
ENST00000703609.1:c.1114A>T ENSP00000515393.1:p.Met372Leu
ENST00000703610.1:c.*472A>T ENSP00000515394.1:n.*472A>T
ENST00000310144.11:c.1195A>T MANE Select ENSP00000310572.6:p.Met399Leu
ENST00000310144.10:c.1195A>T ENSP00000310572.6:p.Met399Leu
ENST00000375812.8:c.1171A>T ENSP00000364970.4:p.Met391Leu
ENST00000578570.5:n.1605A>T
ENST00000579147.5:n.2510A>T
ENST00000580864.5:c.1171A>T ENSP00000462495.1:p.Met391Leu
ENST00000581882.5:c.1171A>T ENSP00000463938.1:p.Met391Leu
ENST00000584657.1:n.500A>T
ENST00000585242.5:c.*966A>T ENSP00000463107.1:n.*966A>T
NM_001199163.1:c.1171A>T NP_001186092.1:p.Met391Leu
NM_002805.5:c.1195A>T NP_002796.4:p.Met399Leu
XM_006721980.1:c.1195A>T XP_006722043.1:p.Met399Leu
XR_934508.1:n.1284A>T
XM_024450840.1:c.1276A>T XP_024306608.1:p.Met426Leu
XM_024450841.1:c.1252A>T XP_024306609.1:p.Met418Leu
XR_934508.2:n.1271A>T
NM_002805.6:c.1195A>T MANE Select NP_002796.4:p.Met399Leu
NM_001199163.2:c.1171A>T NP_001186092.1:p.Met391Leu