Canonical Allele Identifier: CA360936946

Gene: RAD50 TH2LCRR

Linked Data

• MyVariant Identifiers: chr5:g.131977971A>T (hg19) ; chr5:g.132642279A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642279A>T , CM000667.2:g.132642279A>T	GRCh38
NC_000005.9:g.131977971A>T , CM000667.1:g.131977971A>T	GRCh37
NC_000005.8:g.132005870A>T	NCBI36
NG_021151.1:g.90356A>T
NG_021151.2:g.90303A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3854A>T (RAD50) MANE Select	ENSP00000368100.4:p.Lys1285Ile
ENST00000638452.2:c.3557A>T	ENSP00000492349.2:p.Lys1186Ile
ENST00000638504.1:n.3462A>T
ENST00000638568.2:c.3557A>T	ENSP00000491158.2:p.Lys1186Ile
ENST00000639899.1:n.4373A>T
ENST00000640655.2:c.3557A>T	ENSP00000491596.2:p.Lys1186Ile
ENST00000651249.1:c.690A>T (RAD50)
ENST00000378823.7:c.3854A>T (RAD50)	ENSP00000368100.4:p.Lys1285Ile
ENST00000455677.1:c.388-726A>T (RAD50)
ENST00000533482.5:c.*3480A>T (RAD50)	ENSP00000431225.1:n.*3480A>T
NM_005732.3:c.3854A>T (RAD50)	NP_005723.2:p.Lys1285Ile
NR_132125.1:n.108T>A (TH2LCRR)
NR_132126.1:n.175-4014T>A (TH2LCRR)
NM_005732.4:c.3854A>T (RAD50) MANE Select	NP_005723.2:p.Lys1285Ile