Canonical Allele Identifier: CA360959221

Gene: RAD50

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132608717C>A , CM000667.2:g.132608717C>A	GRCh38
NC_000005.9:g.131944409C>A , CM000667.1:g.131944409C>A	GRCh37
NC_000005.8:g.131972308C>A	NCBI36
NG_021151.1:g.56794C>A
NG_021151.2:g.56741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2821C>A MANE Select	ENSP00000368100.4:p.Gln941Lys
ENST00000638452.2:c.2524C>A	ENSP00000492349.2:p.Gln842Lys
ENST00000638504.1:n.2429C>A
ENST00000638568.2:c.2524C>A	ENSP00000491158.2:p.Gln842Lys
ENST00000639899.1:n.3340C>A
ENST00000640655.2:c.2524C>A	ENSP00000491596.2:p.Gln842Lys
ENST00000651160.1:c.*965C>A	ENSP00000498829.1:n.*965C>A
ENST00000651723.1:c.*2904C>A	ENSP00000498237.1:n.*2904C>A
ENST00000378823.7:c.2821C>A	ENSP00000368100.4:p.Gln941Lys
ENST00000423956.5:c.*1007C>A	ENSP00000390971.1:n.*1007C>A
ENST00000533482.5:c.*2447C>A	ENSP00000431225.1:n.*2447C>A
NM_005732.3:c.2821C>A	NP_005723.2:p.Gln941Lys
NM_005732.4:c.2821C>A MANE Select	NP_005723.2:p.Gln941Lys