Canonical Allele Identifier: CA446363135

Gene: RAD50

Linked Data

• ClinVar Variation Id: 480483
• ClinVar RCV Id: RCV000570158
• dbSNP Id: rs1554098685
• MyVariant Identifiers: chr5:g.131931371T>A (hg19) ; chr5:g.132595679T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595679T>A , CM000667.2:g.132595679T>A	GRCh38
NC_000005.9:g.131931371T>A , CM000667.1:g.131931371T>A	GRCh37
NC_000005.8:g.131959270T>A	NCBI36
NG_021151.1:g.43756T>A
NG_021151.2:g.43703T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2076T>A MANE Select	ENSP00000368100.4:p.Ala692=
ENST00000638452.2:c.1779T>A	ENSP00000492349.2:p.Ala593=
ENST00000638504.1:n.1684T>A
ENST00000638568.2:c.1779T>A	ENSP00000491158.2:p.Ala593=
ENST00000639899.1:n.2595T>A
ENST00000640655.2:c.1779T>A	ENSP00000491596.2:p.Ala593=
ENST00000651160.1:c.*220T>A	ENSP00000498829.1:n.*220T>A
ENST00000651658.1:n.2619T>A
ENST00000651723.1:c.*2159T>A	ENSP00000498237.1:n.*2159T>A
ENST00000652016.1:c.*293T>A	ENSP00000498267.1:n.*293T>A
ENST00000652485.1:c.2109T>A	ENSP00000498973.1:p.Ala703=
ENST00000378823.7:c.2076T>A	ENSP00000368100.4:p.Ala692=
ENST00000423956.5:c.*262T>A	ENSP00000390971.1:n.*262T>A
ENST00000453394.5:c.1893T>A	ENSP00000400049.1:p.Ala631=
ENST00000496204.1:n.159T>A
ENST00000533482.5:c.*1702T>A	ENSP00000431225.1:n.*1702T>A
NM_005732.3:c.2076T>A	NP_005723.2:p.Ala692=
NM_005732.4:c.2076T>A MANE Select	NP_005723.2:p.Ala692=