Canonical Allele Identifier: CA501201558

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63831942-C-T
• MyVariant Identifiers: chr17:g.61909302C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831942C>T , CM000679.2:g.63831942C>T	GRCh38
NC_000017.10:g.61909302C>T , CM000679.1:g.61909302C>T	GRCh37
NC_000017.9:g.59263034C>T	NCBI36
NG_053004.1:g.16050G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*391C>T	ENSP00000464347.2:n.*391C>T
ENST00000703608.1:c.*711C>T	ENSP00000515392.1:n.*711C>T
ENST00000703609.1:c.1113C>T	ENSP00000515393.1:p.Asn371=
ENST00000703610.1:c.*471C>T	ENSP00000515394.1:n.*471C>T
ENST00000310144.11:c.1194C>T MANE Select	ENSP00000310572.6:p.Asn398=
ENST00000310144.10:c.1194C>T	ENSP00000310572.6:p.Asn398=
ENST00000375812.8:c.1170C>T	ENSP00000364970.4:p.Asn390=
ENST00000578570.5:n.1604C>T
ENST00000579147.5:n.2509C>T
ENST00000580864.5:c.1170C>T	ENSP00000462495.1:p.Asn390=
ENST00000581882.5:c.1170C>T	ENSP00000463938.1:p.Asn390=
ENST00000584657.1:n.499C>T
ENST00000585242.5:c.*965C>T	ENSP00000463107.1:n.*965C>T
NM_001199163.1:c.1170C>T	NP_001186092.1:p.Asn390=
NM_002805.5:c.1194C>T	NP_002796.4:p.Asn398=
XM_006721980.1:c.1194C>T	XP_006722043.1:p.Asn398=
XR_934508.1:n.1283C>T
XM_024450840.1:c.1275C>T	XP_024306608.1:p.Asn425=
XM_024450841.1:c.1251C>T	XP_024306609.1:p.Asn417=
XR_934508.2:n.1270C>T
NM_002805.6:c.1194C>T MANE Select	NP_002796.4:p.Asn398=
NM_001199163.2:c.1170C>T	NP_001186092.1:p.Asn390=