Canonical Allele Identifier: CA501201557
Gene: PSMC5 HGNC NCBI

Linked Data

dbSNP Id: rs2040195127
MyVariant Identifiers: chr17:g.61909299A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63831939A>G , CM000679.2:g.63831939A>G GRCh38
NC_000017.10:g.61909299A>G , CM000679.1:g.61909299A>G GRCh37
NC_000017.9:g.59263031A>G NCBI36
NG_053004.1:g.16053T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584880.6:c.*388A>G ENSP00000464347.2:n.*388A>G
ENST00000703608.1:c.*708A>G ENSP00000515392.1:n.*708A>G
ENST00000703609.1:c.1110A>G ENSP00000515393.1:p.Lys370=
ENST00000703610.1:c.*468A>G ENSP00000515394.1:n.*468A>G
ENST00000310144.11:c.1191A>G MANE Select ENSP00000310572.6:p.Lys397=
ENST00000310144.10:c.1191A>G ENSP00000310572.6:p.Lys397=
ENST00000375812.8:c.1167A>G ENSP00000364970.4:p.Lys389=
ENST00000578570.5:n.1601A>G
ENST00000579147.5:n.2506A>G
ENST00000580864.5:c.1167A>G ENSP00000462495.1:p.Lys389=
ENST00000581882.5:c.1167A>G ENSP00000463938.1:p.Lys389=
ENST00000584657.1:n.496A>G
ENST00000585242.5:c.*962A>G ENSP00000463107.1:n.*962A>G
NM_001199163.1:c.1167A>G NP_001186092.1:p.Lys389=
NM_002805.5:c.1191A>G NP_002796.4:p.Lys397=
XM_006721980.1:c.1191A>G XP_006722043.1:p.Lys397=
XR_934508.1:n.1280A>G
XM_024450840.1:c.1272A>G XP_024306608.1:p.Lys424=
XM_024450841.1:c.1248A>G XP_024306609.1:p.Lys416=
XR_934508.2:n.1267A>G
NM_002805.6:c.1191A>G MANE Select NP_002796.4:p.Lys397=
NM_001199163.2:c.1167A>G NP_001186092.1:p.Lys389=