Canonical Allele Identifier: CA360937263

Gene: RAD50 TH2LCRR

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642315C>A , CM000667.2:g.132642315C>A	GRCh38
NC_000005.9:g.131978007C>A , CM000667.1:g.131978007C>A	GRCh37
NC_000005.8:g.132005906C>A	NCBI36
NG_021151.1:g.90392C>A
NG_021151.2:g.90339C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3890C>A (RAD50) MANE Select	ENSP00000368100.4:p.Ser1297Ter
ENST00000638452.2:c.3593C>A	ENSP00000492349.2:p.Ser1198Ter
ENST00000638504.1:n.3498C>A
ENST00000638568.2:c.3593C>A	ENSP00000491158.2:p.Ser1198Ter
ENST00000639899.1:n.4409C>A
ENST00000640655.2:c.3593C>A	ENSP00000491596.2:p.Ser1198Ter
ENST00000651249.1:c.726C>A (RAD50)
ENST00000378823.7:c.3890C>A (RAD50)	ENSP00000368100.4:p.Ser1297Ter
ENST00000455677.1:c.388-690C>A (RAD50)
ENST00000533482.5:c.*3516C>A (RAD50)	ENSP00000431225.1:n.*3516C>A
NM_005732.3:c.3890C>A (RAD50)	NP_005723.2:p.Ser1297Ter
NR_132125.1:n.105-33G>T (TH2LCRR)
NR_132126.1:n.175-4050G>T (TH2LCRR)
NM_005732.4:c.3890C>A (RAD50) MANE Select	NP_005723.2:p.Ser1297Ter