Canonical Allele Identifier: CA400596623

Gene: PSMC5

Linked Data

• MyVariant Identifiers: chr17:g.61909307C>T (hg19) ; chr17:g.63831947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831947C>T , CM000679.2:g.63831947C>T	GRCh38
NC_000017.10:g.61909307C>T , CM000679.1:g.61909307C>T	GRCh37
NC_000017.9:g.59263039C>T	NCBI36
NG_053004.1:g.16045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*396C>T	ENSP00000464347.2:n.*396C>T
ENST00000703608.1:c.*716C>T	ENSP00000515392.1:n.*716C>T
ENST00000703609.1:c.1118C>T	ENSP00000515393.1:p.Ser373Phe
ENST00000703610.1:c.*476C>T	ENSP00000515394.1:n.*476C>T
ENST00000310144.11:c.1199C>T MANE Select	ENSP00000310572.6:p.Ser400Phe
ENST00000310144.10:c.1199C>T	ENSP00000310572.6:p.Ser400Phe
ENST00000375812.8:c.1175C>T	ENSP00000364970.4:p.Ser392Phe
ENST00000578570.5:n.1609C>T
ENST00000579147.5:n.2514C>T
ENST00000580864.5:c.1175C>T	ENSP00000462495.1:p.Ser392Phe
ENST00000581882.5:c.1175C>T	ENSP00000463938.1:p.Ser392Phe
ENST00000584657.1:n.504C>T
ENST00000585242.5:c.*970C>T	ENSP00000463107.1:n.*970C>T
NM_001199163.1:c.1175C>T	NP_001186092.1:p.Ser392Phe
NM_002805.5:c.1199C>T	NP_002796.4:p.Ser400Phe
XM_006721980.1:c.1199C>T	XP_006722043.1:p.Ser400Phe
XR_934508.1:n.1288C>T
XM_024450840.1:c.1280C>T	XP_024306608.1:p.Ser427Phe
XM_024450841.1:c.1256C>T	XP_024306609.1:p.Ser419Phe
XR_934508.2:n.1275C>T
NM_002805.6:c.1199C>T MANE Select	NP_002796.4:p.Ser400Phe
NM_001199163.2:c.1175C>T	NP_001186092.1:p.Ser392Phe