Canonical Allele Identifier: CA400596637

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909314G>C (hg19) ; chr17:g.63831954G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831954G>C , CM000679.2:g.63831954G>C	GRCh38
NC_000017.10:g.61909314G>C , CM000679.1:g.61909314G>C	GRCh37
NC_000017.9:g.59263046G>C	NCBI36
NG_053004.1:g.16038C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*403G>C	ENSP00000464347.2:n.*403G>C
ENST00000703608.1:c.*723G>C	ENSP00000515392.1:n.*723G>C
ENST00000703609.1:c.1125G>C	ENSP00000515393.1:p.Lys375Asn
ENST00000703610.1:c.*483G>C	ENSP00000515394.1:n.*483G>C
ENST00000310144.11:c.1206G>C MANE Select	ENSP00000310572.6:p.Lys402Asn
ENST00000310144.10:c.1206G>C	ENSP00000310572.6:p.Lys402Asn
ENST00000375812.8:c.1182G>C	ENSP00000364970.4:p.Lys394Asn
ENST00000578570.5:n.1616G>C
ENST00000579147.5:n.2521G>C
ENST00000580864.5:c.1182G>C	ENSP00000462495.1:p.Lys394Asn
ENST00000581882.5:c.1182G>C	ENSP00000463938.1:p.Lys394Asn
ENST00000584657.1:n.511G>C
ENST00000585242.5:c.*977G>C	ENSP00000463107.1:n.*977G>C
NM_001199163.1:c.1182G>C	NP_001186092.1:p.Lys394Asn
NM_002805.5:c.1206G>C	NP_002796.4:p.Lys402Asn
XM_006721980.1:c.1206G>C	XP_006722043.1:p.Lys402Asn
XR_934508.1:n.1295G>C
XM_024450840.1:c.1287G>C	XP_024306608.1:p.Lys429Asn
XM_024450841.1:c.1263G>C	XP_024306609.1:p.Lys421Asn
XR_934508.2:n.1282G>C
NM_002805.6:c.1206G>C MANE Select	NP_002796.4:p.Lys402Asn
NM_001199163.2:c.1182G>C	NP_001186092.1:p.Lys394Asn