Canonical Allele Identifier: CA360949680

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931352G>A (hg19) ; chr5:g.132595660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595660G>A , CM000667.2:g.132595660G>A	GRCh38
NC_000005.9:g.131931352G>A , CM000667.1:g.131931352G>A	GRCh37
NC_000005.8:g.131959251G>A	NCBI36
NG_021151.1:g.43737G>A
NG_021151.2:g.43684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2057G>A MANE Select	ENSP00000368100.4:p.Arg686Lys
ENST00000638452.2:c.1760G>A	ENSP00000492349.2:p.Arg587Lys
ENST00000638504.1:n.1665G>A
ENST00000638568.2:c.1760G>A	ENSP00000491158.2:p.Arg587Lys
ENST00000639899.1:n.2576G>A
ENST00000640655.2:c.1760G>A	ENSP00000491596.2:p.Arg587Lys
ENST00000651160.1:c.*201G>A	ENSP00000498829.1:n.*201G>A
ENST00000651658.1:n.2600G>A
ENST00000651723.1:c.*2140G>A	ENSP00000498237.1:n.*2140G>A
ENST00000652016.1:c.*274G>A	ENSP00000498267.1:n.*274G>A
ENST00000652485.1:c.2090G>A	ENSP00000498973.1:p.Arg697Lys
ENST00000378823.7:c.2057G>A	ENSP00000368100.4:p.Arg686Lys
ENST00000423956.5:c.*243G>A	ENSP00000390971.1:n.*243G>A
ENST00000453394.5:c.1874G>A	ENSP00000400049.1:p.Arg625Lys
ENST00000496204.1:n.140G>A
ENST00000533482.5:c.*1683G>A	ENSP00000431225.1:n.*1683G>A
NM_005732.3:c.2057G>A	NP_005723.2:p.Arg686Lys
NM_005732.4:c.2057G>A MANE Select	NP_005723.2:p.Arg686Lys