Canonical Allele Identifier: CA400596669

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909326G>C (hg19) ; chr17:g.63831966G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831966G>C , CM000679.2:g.63831966G>C	GRCh38
NC_000017.10:g.61909326G>C , CM000679.1:g.61909326G>C	GRCh37
NC_000017.9:g.59263058G>C	NCBI36
NG_053004.1:g.16026C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*415G>C	ENSP00000464347.2:n.*415G>C
ENST00000703608.1:c.*735G>C	ENSP00000515392.1:n.*735G>C
ENST00000703609.1:c.1137G>C	ENSP00000515393.1:p.Lys379Asn
ENST00000703610.1:c.*495G>C	ENSP00000515394.1:n.*495G>C
ENST00000310144.11:c.1218G>C MANE Select	ENSP00000310572.6:p.Lys406Asn
ENST00000310144.10:c.1218G>C	ENSP00000310572.6:p.Lys406Asn
ENST00000375812.8:c.1194G>C	ENSP00000364970.4:p.Lys398Asn
ENST00000578570.5:n.1628G>C
ENST00000579147.5:n.2533G>C
ENST00000580864.5:c.1194G>C	ENSP00000462495.1:p.Lys398Asn
ENST00000581882.5:c.1194G>C	ENSP00000463938.1:p.Lys398Asn
ENST00000584657.1:n.523G>C
ENST00000585242.5:c.*989G>C	ENSP00000463107.1:n.*989G>C
NM_001199163.1:c.1194G>C	NP_001186092.1:p.Lys398Asn
NM_002805.5:c.1218G>C	NP_002796.4:p.Lys406Asn
XM_006721980.1:c.1218G>C	XP_006722043.1:p.Lys406Asn
XR_934508.1:n.1307G>C
XM_024450840.1:c.1299G>C	XP_024306608.1:p.Lys433Asn
XM_024450841.1:c.1275G>C	XP_024306609.1:p.Lys425Asn
XR_934508.2:n.1294G>C
NM_002805.6:c.1218G>C MANE Select	NP_002796.4:p.Lys406Asn
NM_001199163.2:c.1194G>C	NP_001186092.1:p.Lys398Asn