Canonical Allele Identifier: CA3197921

Gene: CCT5

Linked Data

• ClinVar Variation Id: 350245
• ClinVar RCV Id: RCV000603138 ; RCV001700339 ; RCV001653682
• dbSNP Id: rs2548546
• ExAC: 5:10250430 G / A
• gnomAD v2: 5-10250430-G-A
• gnomAD v3: 5-10250318-G-A
• gnomAD v4: 5-10250318-G-A
• MyVariant Identifiers: chr5:g.10250430G>A (hg19) ; chr5:g.10250318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.10250318G>A , CM000667.2:g.10250318G>A	GRCh38
NC_000005.9:g.10250430G>A , CM000667.1:g.10250430G>A	GRCh37
NC_000005.8:g.10303430G>A	NCBI36
NG_012160.1:g.5149G>A , LRG_361:g.5149G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000280326.9:c.-23G>A MANE Select	ENSP00000280326.4:n.-23G>A
ENST00000280326.8:c.-23G>A	ENSP00000280326.4:n.-23G>A
ENST00000503026.5:c.42+273G>A	ENSP00000423318.1:n.42+273G>A
ENST00000508451.1:n.10G>A
ENST00000511700.1:c.76G>A	ENSP00000423087.1:p.Glu26Lys
ENST00000515390.5:c.-23G>A	ENSP00000426923.1:n.-23G>A
NM_001306153.1:c.42+273G>A	NP_001293082.1:n.42+273G>A
NM_001306154.1:c.-23G>A	NP_001293083.1:n.-23G>A
NM_012073.3:c.-23G>A , LRG_361t1:c.-23G>A	NP_036205.1:n.-23G>A
NM_012073.4:c.-23G>A	NP_036205.1:n.-23G>A
NM_012073.5:c.-23G>A MANE Select	NP_036205.1:n.-23G>A
NM_001306154.2:c.-23G>A	NP_001293083.1:n.-23G>A