Canonical Allele Identifier: CA627149431

Gene: PSMC5

Linked Data

• dbSNP Id: rs1315633115
• gnomAD v2: 17-61909246-C-T
• gnomAD v4: 17-63831886-C-T
• MyVariant Identifiers: chr17:g.61909246C>T (hg19) ; chr17:g.63831886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831886C>T , CM000679.2:g.63831886C>T	GRCh38
NC_000017.10:g.61909246C>T , CM000679.1:g.61909246C>T	GRCh37
NC_000017.9:g.59262978C>T	NCBI36
NG_053004.1:g.16106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*365-30C>T	ENSP00000464347.2:n.*365-30C>T
ENST00000703608.1:c.*685-30C>T	ENSP00000515392.1:n.*685-30C>T
ENST00000703609.1:c.1087-30C>T	ENSP00000515393.1:n.1087-30C>T
ENST00000703610.1:c.*445-30C>T	ENSP00000515394.1:n.*445-30C>T
ENST00000310144.11:c.1168-30C>T MANE Select	ENSP00000310572.6:n.1168-30C>T
ENST00000310144.10:c.1168-30C>T	ENSP00000310572.6:n.1168-30C>T
ENST00000375812.8:c.1144-30C>T	ENSP00000364970.4:n.1144-30C>T
ENST00000578570.5:n.1578-30C>T
ENST00000579147.5:n.2483-30C>T
ENST00000580864.5:c.1144-30C>T	ENSP00000462495.1:n.1144-30C>T
ENST00000581882.5:c.1144-30C>T	ENSP00000463938.1:n.1144-30C>T
ENST00000584657.1:n.473-30C>T
ENST00000585242.5:c.*939-30C>T	ENSP00000463107.1:n.*939-30C>T
NM_001199163.1:c.1144-30C>T	NP_001186092.1:n.1144-30C>T
NM_002805.5:c.1168-30C>T	NP_002796.4:n.1168-30C>T
XM_006721980.1:c.1168-30C>T	XP_006722043.1:n.1168-30C>T
XR_934508.1:n.1257-30C>T
XM_024450840.1:c.1249-30C>T	XP_024306608.1:n.1249-30C>T
XM_024450841.1:c.1225-30C>T	XP_024306609.1:n.1225-30C>T
XR_934508.2:n.1244-30C>T
NM_002805.6:c.1168-30C>T MANE Select	NP_002796.4:n.1168-30C>T
NM_001199163.2:c.1144-30C>T	NP_001186092.1:n.1144-30C>T