Canonical Allele Identifier: CA501201569
Gene: PSMC5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.61909328G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63831968G>A , CM000679.2:g.63831968G>A GRCh38
NC_000017.10:g.61909328G>A , CM000679.1:g.61909328G>A GRCh37
NC_000017.9:g.59263060G>A NCBI36
NG_053004.1:g.16024C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584880.6:c.*417G>A ENSP00000464347.2:n.*417G>A
ENST00000703608.1:c.*737G>A ENSP00000515392.1:n.*737G>A
ENST00000703609.1:c.1139G>A ENSP00000515393.1:p.Ter380=
ENST00000703610.1:c.*497G>A ENSP00000515394.1:n.*497G>A
ENST00000310144.11:c.1220G>A MANE Select ENSP00000310572.6:p.Ter407=
ENST00000310144.10:c.1220G>A ENSP00000310572.6:p.Ter407=
ENST00000375812.8:c.1196G>A ENSP00000364970.4:p.Ter399=
ENST00000578570.5:n.1630G>A
ENST00000579147.5:n.2535G>A
ENST00000580864.5:c.1196G>A ENSP00000462495.1:p.Ter399=
ENST00000581882.5:c.1196G>A ENSP00000463938.1:p.Ter399=
ENST00000584657.1:n.525G>A
ENST00000585242.5:c.*991G>A ENSP00000463107.1:n.*991G>A
NM_001199163.1:c.1196G>A NP_001186092.1:p.Ter399=
NM_002805.5:c.1220G>A NP_002796.4:p.Ter407=
XM_006721980.1:c.1220G>A XP_006722043.1:p.Ter407=
XR_934508.1:n.1309G>A
XM_024450840.1:c.1301G>A XP_024306608.1:p.Ter434=
XM_024450841.1:c.1277G>A XP_024306609.1:p.Ter426=
XR_934508.2:n.1296G>A
NM_002805.6:c.1220G>A MANE Select NP_002796.4:p.Ter407=
NM_001199163.2:c.1196G>A NP_001186092.1:p.Ter399=