Canonical Allele Identifier: CA446495337

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131945040G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609348G>A , CM000667.2:g.132609348G>A	GRCh38
NC_000005.9:g.131945040G>A , CM000667.1:g.131945040G>A	GRCh37
NC_000005.8:g.131972939G>A	NCBI36
NG_021151.1:g.57425G>A
NG_021151.2:g.57372G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2988G>A MANE Select	ENSP00000368100.4:p.Lys996=
ENST00000638452.2:c.2691G>A	ENSP00000492349.2:p.Lys897=
ENST00000638504.1:n.2596G>A
ENST00000638568.2:c.2691G>A	ENSP00000491158.2:p.Lys897=
ENST00000639899.1:n.3507G>A
ENST00000640655.2:c.2691G>A	ENSP00000491596.2:p.Lys897=
ENST00000651723.1:c.*3071G>A	ENSP00000498237.1:n.*3071G>A
ENST00000378823.7:c.2988G>A	ENSP00000368100.4:p.Lys996=
ENST00000533482.5:c.*2614G>A	ENSP00000431225.1:n.*2614G>A
NM_005732.3:c.2988G>A	NP_005723.2:p.Lys996=
NM_005732.4:c.2988G>A MANE Select	NP_005723.2:p.Lys996=