Canonical Allele Identifier: CA400596648

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909318T>G (hg19) ; chr17:g.63831958T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831958T>G , CM000679.2:g.63831958T>G	GRCh38
NC_000017.10:g.61909318T>G , CM000679.1:g.61909318T>G	GRCh37
NC_000017.9:g.59263050T>G	NCBI36
NG_053004.1:g.16034A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*407T>G	ENSP00000464347.2:n.*407T>G
ENST00000703608.1:c.*727T>G	ENSP00000515392.1:n.*727T>G
ENST00000703609.1:c.1129T>G	ENSP00000515393.1:p.Leu377Val
ENST00000703610.1:c.*487T>G	ENSP00000515394.1:n.*487T>G
ENST00000310144.11:c.1210T>G MANE Select	ENSP00000310572.6:p.Leu404Val
ENST00000310144.10:c.1210T>G	ENSP00000310572.6:p.Leu404Val
ENST00000375812.8:c.1186T>G	ENSP00000364970.4:p.Leu396Val
ENST00000578570.5:n.1620T>G
ENST00000579147.5:n.2525T>G
ENST00000580864.5:c.1186T>G	ENSP00000462495.1:p.Leu396Val
ENST00000581882.5:c.1186T>G	ENSP00000463938.1:p.Leu396Val
ENST00000584657.1:n.515T>G
ENST00000585242.5:c.*981T>G	ENSP00000463107.1:n.*981T>G
NM_001199163.1:c.1186T>G	NP_001186092.1:p.Leu396Val
NM_002805.5:c.1210T>G	NP_002796.4:p.Leu404Val
XM_006721980.1:c.1210T>G	XP_006722043.1:p.Leu404Val
XR_934508.1:n.1299T>G
XM_024450840.1:c.1291T>G	XP_024306608.1:p.Leu431Val
XM_024450841.1:c.1267T>G	XP_024306609.1:p.Leu423Val
XR_934508.2:n.1286T>G
NM_002805.6:c.1210T>G MANE Select	NP_002796.4:p.Leu404Val
NM_001199163.2:c.1186T>G	NP_001186092.1:p.Leu396Val