Canonical Allele Identifier: CA8706109

Gene: PSMC5

Linked Data

• dbSNP Id: rs759249653
• ExAC: 17:61909228 G / A
• gnomAD v2: 17-61909228-G-A
• gnomAD v3: 17-63831868-G-A
• gnomAD v4: 17-63831868-G-A
• MyVariant Identifiers: chr17:g.61909228G>A (hg19) ; chr17:g.63831868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63831868G>A , CM000679.2:g.63831868G>A	GRCh38
NC_000017.10:g.61909228G>A , CM000679.1:g.61909228G>A	GRCh37
NC_000017.9:g.59262960G>A	NCBI36
NG_053004.1:g.16124C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584880.6:c.*365-48G>A	ENSP00000464347.2:n.*365-48G>A
ENST00000703608.1:c.*685-48G>A	ENSP00000515392.1:n.*685-48G>A
ENST00000703609.1:c.1087-48G>A	ENSP00000515393.1:n.1087-48G>A
ENST00000703610.1:c.*445-48G>A	ENSP00000515394.1:n.*445-48G>A
ENST00000310144.11:c.1168-48G>A MANE Select	ENSP00000310572.6:n.1168-48G>A
ENST00000310144.10:c.1168-48G>A	ENSP00000310572.6:n.1168-48G>A
ENST00000375812.8:c.1144-48G>A	ENSP00000364970.4:n.1144-48G>A
ENST00000578570.5:n.1578-48G>A
ENST00000579147.5:n.2483-48G>A
ENST00000580864.5:c.1144-48G>A	ENSP00000462495.1:n.1144-48G>A
ENST00000581882.5:c.1144-48G>A	ENSP00000463938.1:n.1144-48G>A
ENST00000584657.1:n.473-48G>A
ENST00000585242.5:c.*939-48G>A	ENSP00000463107.1:n.*939-48G>A
NM_001199163.1:c.1144-48G>A	NP_001186092.1:n.1144-48G>A
NM_002805.5:c.1168-48G>A	NP_002796.4:n.1168-48G>A
XM_006721980.1:c.1168-48G>A	XP_006722043.1:n.1168-48G>A
XR_934508.1:n.1257-48G>A
XM_024450840.1:c.1249-48G>A	XP_024306608.1:n.1249-48G>A
XM_024450841.1:c.1225-48G>A	XP_024306609.1:n.1225-48G>A
XR_934508.2:n.1244-48G>A
NM_002805.6:c.1168-48G>A MANE Select	NP_002796.4:n.1168-48G>A
NM_001199163.2:c.1144-48G>A	NP_001186092.1:n.1144-48G>A