Canonical Allele Identifier: CA2270102914

Gene: PSMC5

Linked Data

• dbSNP Id: rs2040194186
• gnomAD v4: 17-63831902-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831902T>C , CM000679.2:g.63831902T>C	GRCh38
NC_000017.10:g.61909262T>C , CM000679.1:g.61909262T>C	GRCh37
NC_000017.9:g.59262994T>C	NCBI36
NG_053004.1:g.16090A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*365-14T>C	ENSP00000464347.2:n.*365-14T>C
ENST00000703608.1:c.*685-14T>C	ENSP00000515392.1:n.*685-14T>C
ENST00000703609.1:c.1087-14T>C	ENSP00000515393.1:n.1087-14T>C
ENST00000703610.1:c.*445-14T>C	ENSP00000515394.1:n.*445-14T>C
ENST00000310144.11:c.1168-14T>C MANE Select	ENSP00000310572.6:n.1168-14T>C
ENST00000310144.10:c.1168-14T>C	ENSP00000310572.6:n.1168-14T>C
ENST00000375812.8:c.1144-14T>C	ENSP00000364970.4:n.1144-14T>C
ENST00000578570.5:n.1578-14T>C
ENST00000579147.5:n.2483-14T>C
ENST00000580864.5:c.1144-14T>C	ENSP00000462495.1:n.1144-14T>C
ENST00000581882.5:c.1144-14T>C	ENSP00000463938.1:n.1144-14T>C
ENST00000584657.1:n.473-14T>C
ENST00000585242.5:c.*939-14T>C	ENSP00000463107.1:n.*939-14T>C
NM_001199163.1:c.1144-14T>C	NP_001186092.1:n.1144-14T>C
NM_002805.5:c.1168-14T>C	NP_002796.4:n.1168-14T>C
XM_006721980.1:c.1168-14T>C	XP_006722043.1:n.1168-14T>C
XR_934508.1:n.1257-14T>C
XM_024450840.1:c.1249-14T>C	XP_024306608.1:n.1249-14T>C
XM_024450841.1:c.1225-14T>C	XP_024306609.1:n.1225-14T>C
XR_934508.2:n.1244-14T>C
NM_002805.6:c.1168-14T>C MANE Select	NP_002796.4:n.1168-14T>C
NM_001199163.2:c.1144-14T>C	NP_001186092.1:n.1144-14T>C