Canonical Allele Identifier: CA446495288

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2755859
• ClinVar RCV Id: RCV003584277
• MyVariant Identifiers: chr5:g.131944977A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609285A>G , CM000667.2:g.132609285A>G	GRCh38
NC_000005.9:g.131944977A>G , CM000667.1:g.131944977A>G	GRCh37
NC_000005.8:g.131972876A>G	NCBI36
NG_021151.1:g.57362A>G
NG_021151.2:g.57309A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2925A>G MANE Select	ENSP00000368100.4:p.Gln975=
ENST00000638452.2:c.2628A>G	ENSP00000492349.2:p.Gln876=
ENST00000638504.1:n.2533A>G
ENST00000638568.2:c.2628A>G	ENSP00000491158.2:p.Gln876=
ENST00000639899.1:n.3444A>G
ENST00000640655.2:c.2628A>G	ENSP00000491596.2:p.Gln876=
ENST00000651160.1:c.*1069A>G	ENSP00000498829.1:n.*1069A>G
ENST00000651723.1:c.*3008A>G	ENSP00000498237.1:n.*3008A>G
ENST00000378823.7:c.2925A>G	ENSP00000368100.4:p.Gln975=
ENST00000423956.5:c.*1111A>G	ENSP00000390971.1:n.*1111A>G
ENST00000533482.5:c.*2551A>G	ENSP00000431225.1:n.*2551A>G
NM_005732.3:c.2925A>G	NP_005723.2:p.Gln975=
NM_005732.4:c.2925A>G MANE Select	NP_005723.2:p.Gln975=