Canonical Allele Identifier: CA360956567

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940586A>T (hg19) ; chr5:g.132604894A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604894A>T , CM000667.2:g.132604894A>T	GRCh38
NC_000005.9:g.131940586A>T , CM000667.1:g.131940586A>T	GRCh37
NC_000005.8:g.131968485A>T	NCBI36
NG_021151.1:g.52971A>T
NG_021151.2:g.52918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2613A>T MANE Select	ENSP00000368100.4:p.Lys871Asn
ENST00000638452.2:c.2316A>T	ENSP00000492349.2:p.Lys772Asn
ENST00000638504.1:n.2221A>T
ENST00000638568.2:c.2316A>T	ENSP00000491158.2:p.Lys772Asn
ENST00000639899.1:n.3132A>T
ENST00000640655.2:c.2316A>T	ENSP00000491596.2:p.Lys772Asn
ENST00000651160.1:c.*757A>T	ENSP00000498829.1:n.*757A>T
ENST00000651723.1:c.*2696A>T	ENSP00000498237.1:n.*2696A>T
ENST00000652016.1:c.*830A>T	ENSP00000498267.1:n.*830A>T
ENST00000652485.1:c.2646A>T	ENSP00000498973.1:p.Lys882Asn
ENST00000378823.7:c.2613A>T	ENSP00000368100.4:p.Lys871Asn
ENST00000423956.5:c.*799A>T	ENSP00000390971.1:n.*799A>T
ENST00000533482.5:c.*2239A>T	ENSP00000431225.1:n.*2239A>T
NM_005732.3:c.2613A>T	NP_005723.2:p.Lys871Asn
NM_005732.4:c.2613A>T MANE Select	NP_005723.2:p.Lys871Asn