Canonical Allele Identifier: CA360935497

Gene: RAD50 TH2LCRR

Linked Data

• MyVariant Identifiers: chr5:g.131977871A>T (hg19) ; chr5:g.132642179A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642179A>T , CM000667.2:g.132642179A>T	GRCh38
NC_000005.9:g.131977871A>T , CM000667.1:g.131977871A>T	GRCh37
NC_000005.8:g.132005770A>T	NCBI36
NG_021151.1:g.90256A>T
NG_021151.2:g.90203A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3754A>T (RAD50) MANE Select	ENSP00000368100.4:p.Ile1252Leu
ENST00000638452.2:c.3457A>T	ENSP00000492349.2:p.Ile1153Leu
ENST00000638504.1:n.3362A>T
ENST00000638568.2:c.3457A>T	ENSP00000491158.2:p.Ile1153Leu
ENST00000639899.1:n.4273A>T
ENST00000640655.2:c.3457A>T	ENSP00000491596.2:p.Ile1153Leu
ENST00000651249.1:c.590A>T (RAD50)
ENST00000378823.7:c.3754A>T (RAD50)	ENSP00000368100.4:p.Ile1252Leu
ENST00000455677.1:c.388-826A>T (RAD50)
ENST00000533482.5:c.*3380A>T (RAD50)	ENSP00000431225.1:n.*3380A>T
NM_005732.3:c.3754A>T (RAD50)	NP_005723.2:p.Ile1252Leu
NR_132125.1:n.189+19T>A (TH2LCRR)
NR_132126.1:n.175-3914T>A (TH2LCRR)
NM_005732.4:c.3754A>T (RAD50) MANE Select	NP_005723.2:p.Ile1252Leu