Canonical Allele Identifier: CA360956560

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940585A>C (hg19) ; chr5:g.132604893A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604893A>C , CM000667.2:g.132604893A>C	GRCh38
NC_000005.9:g.131940585A>C , CM000667.1:g.131940585A>C	GRCh37
NC_000005.8:g.131968484A>C	NCBI36
NG_021151.1:g.52970A>C
NG_021151.2:g.52917A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2612A>C MANE Select	ENSP00000368100.4:p.Lys871Thr
ENST00000638452.2:c.2315A>C	ENSP00000492349.2:p.Lys772Thr
ENST00000638504.1:n.2220A>C
ENST00000638568.2:c.2315A>C	ENSP00000491158.2:p.Lys772Thr
ENST00000639899.1:n.3131A>C
ENST00000640655.2:c.2315A>C	ENSP00000491596.2:p.Lys772Thr
ENST00000651160.1:c.*756A>C	ENSP00000498829.1:n.*756A>C
ENST00000651723.1:c.*2695A>C	ENSP00000498237.1:n.*2695A>C
ENST00000652016.1:c.*829A>C	ENSP00000498267.1:n.*829A>C
ENST00000652485.1:c.2645A>C	ENSP00000498973.1:p.Lys882Thr
ENST00000378823.7:c.2612A>C	ENSP00000368100.4:p.Lys871Thr
ENST00000423956.5:c.*798A>C	ENSP00000390971.1:n.*798A>C
ENST00000533482.5:c.*2238A>C	ENSP00000431225.1:n.*2238A>C
NM_005732.3:c.2612A>C	NP_005723.2:p.Lys871Thr
NM_005732.4:c.2612A>C MANE Select	NP_005723.2:p.Lys871Thr