Canonical Allele Identifier: CA194820

Gene: RAD50

Linked Data

• ClinVar Variation Id: 186441
• ClinVar RCV Id: RCV000166033 ; RCV001420781
• dbSNP Id: rs537257801
• ExAC: 5:131940661 T / C
• gnomAD v2: 5-131940661-T-C
• gnomAD v3: 5-132604969-T-C
• gnomAD v4: 5-132604969-T-C
• MyVariant Identifiers: chr5:g.131940661T>C (hg19) ; chr5:g.132604969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604969T>C , CM000667.2:g.132604969T>C	GRCh38
NC_000005.9:g.131940661T>C , CM000667.1:g.131940661T>C	GRCh37
NC_000005.8:g.131968560T>C	NCBI36
NG_021151.1:g.53046T>C
NG_021151.2:g.52993T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2688T>C MANE Select	ENSP00000368100.4:p.Thr896=
ENST00000638452.2:c.2391T>C	ENSP00000492349.2:p.Thr797=
ENST00000638504.1:n.2296T>C
ENST00000638568.2:c.2391T>C	ENSP00000491158.2:p.Thr797=
ENST00000639899.1:n.3207T>C
ENST00000640655.2:c.2391T>C	ENSP00000491596.2:p.Thr797=
ENST00000651160.1:c.*832T>C	ENSP00000498829.1:n.*832T>C
ENST00000651723.1:c.*2771T>C	ENSP00000498237.1:n.*2771T>C
ENST00000652016.1:c.*905T>C	ENSP00000498267.1:n.*905T>C
ENST00000378823.7:c.2688T>C	ENSP00000368100.4:p.Thr896=
ENST00000423956.5:c.*874T>C	ENSP00000390971.1:n.*874T>C
ENST00000533482.5:c.*2314T>C	ENSP00000431225.1:n.*2314T>C
NM_005732.3:c.2688T>C	NP_005723.2:p.Thr896=
NM_005732.4:c.2688T>C MANE Select	NP_005723.2:p.Thr896=