Canonical Allele Identifier: CA400596632

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909312A>C (hg19) ; chr17:g.63831952A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831952A>C , CM000679.2:g.63831952A>C	GRCh38
NC_000017.10:g.61909312A>C , CM000679.1:g.61909312A>C	GRCh37
NC_000017.9:g.59263044A>C	NCBI36
NG_053004.1:g.16040T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*401A>C	ENSP00000464347.2:n.*401A>C
ENST00000703608.1:c.*721A>C	ENSP00000515392.1:n.*721A>C
ENST00000703609.1:c.1123A>C	ENSP00000515393.1:p.Lys375Gln
ENST00000703610.1:c.*481A>C	ENSP00000515394.1:n.*481A>C
ENST00000310144.11:c.1204A>C MANE Select	ENSP00000310572.6:p.Lys402Gln
ENST00000310144.10:c.1204A>C	ENSP00000310572.6:p.Lys402Gln
ENST00000375812.8:c.1180A>C	ENSP00000364970.4:p.Lys394Gln
ENST00000578570.5:n.1614A>C
ENST00000579147.5:n.2519A>C
ENST00000580864.5:c.1180A>C	ENSP00000462495.1:p.Lys394Gln
ENST00000581882.5:c.1180A>C	ENSP00000463938.1:p.Lys394Gln
ENST00000584657.1:n.509A>C
ENST00000585242.5:c.*975A>C	ENSP00000463107.1:n.*975A>C
NM_001199163.1:c.1180A>C	NP_001186092.1:p.Lys394Gln
NM_002805.5:c.1204A>C	NP_002796.4:p.Lys402Gln
XM_006721980.1:c.1204A>C	XP_006722043.1:p.Lys402Gln
XR_934508.1:n.1293A>C
XM_024450840.1:c.1285A>C	XP_024306608.1:p.Lys429Gln
XM_024450841.1:c.1261A>C	XP_024306609.1:p.Lys421Gln
XR_934508.2:n.1280A>C
NM_002805.6:c.1204A>C MANE Select	NP_002796.4:p.Lys402Gln
NM_001199163.2:c.1180A>C	NP_001186092.1:p.Lys394Gln