Canonical Allele Identifier: CA2639297884

Gene: PSMC5

Linked Data

• gnomAD v4: 17-63831910-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831910C>G , CM000679.2:g.63831910C>G	GRCh38
NC_000017.10:g.61909270C>G , CM000679.1:g.61909270C>G	GRCh37
NC_000017.9:g.59263002C>G	NCBI36
NG_053004.1:g.16082G>C

Transcript Alleles

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