Canonical Allele Identifier: CA501201566

Gene: PSMC5

Linked Data

• dbSNP Id: rs2040195322
• gnomAD v3: 17-63831958-T-C
• gnomAD v4: 17-63831958-T-C
• MyVariant Identifiers: chr17:g.61909318T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*407T>C	ENSP00000464347.2:n.*407T>C
ENST00000703608.1:c.*727T>C	ENSP00000515392.1:n.*727T>C
ENST00000703609.1:c.1129T>C	ENSP00000515393.1:p.Leu377=
ENST00000703610.1:c.*487T>C	ENSP00000515394.1:n.*487T>C
ENST00000310144.11:c.1210T>C MANE Select	ENSP00000310572.6:p.Leu404=
ENST00000310144.10:c.1210T>C	ENSP00000310572.6:p.Leu404=
ENST00000375812.8:c.1186T>C	ENSP00000364970.4:p.Leu396=
ENST00000578570.5:n.1620T>C
ENST00000579147.5:n.2525T>C
ENST00000580864.5:c.1186T>C	ENSP00000462495.1:p.Leu396=
ENST00000581882.5:c.1186T>C	ENSP00000463938.1:p.Leu396=
ENST00000584657.1:n.515T>C
ENST00000585242.5:c.*981T>C	ENSP00000463107.1:n.*981T>C
NM_001199163.1:c.1186T>C	NP_001186092.1:p.Leu396=
NM_002805.5:c.1210T>C	NP_002796.4:p.Leu404=
XM_006721980.1:c.1210T>C	XP_006722043.1:p.Leu404=
XR_934508.1:n.1299T>C
XM_024450840.1:c.1291T>C	XP_024306608.1:p.Leu431=
XM_024450841.1:c.1267T>C	XP_024306609.1:p.Leu423=
XR_934508.2:n.1286T>C
NM_002805.6:c.1210T>C MANE Select	NP_002796.4:p.Leu404=
NM_001199163.2:c.1186T>C	NP_001186092.1:p.Leu396=