Canonical Allele Identifier: CA360948560

Gene: RAD50

Linked Data

• ClinVar Variation Id: 960718
• ClinVar RCV Id: RCV001234294
• dbSNP Id: rs1331523887
• MyVariant Identifiers: chr5:g.131930719A>T (hg19) ; chr5:g.132595027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595027A>T , CM000667.2:g.132595027A>T	GRCh38
NC_000005.9:g.131930719A>T , CM000667.1:g.131930719A>T	GRCh37
NC_000005.8:g.131958618A>T	NCBI36
NG_021151.1:g.43104A>T
NG_021151.2:g.43051A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1952A>T MANE Select	ENSP00000368100.4:p.Lys651Ile
ENST00000638452.2:c.1655A>T	ENSP00000492349.2:p.Lys552Ile
ENST00000638504.1:n.1480-77A>T
ENST00000638568.2:c.1655A>T	ENSP00000491158.2:p.Lys552Ile
ENST00000639899.1:n.2471A>T
ENST00000640655.2:c.1655A>T	ENSP00000491596.2:p.Lys552Ile
ENST00000651160.1:c.*16-77A>T	ENSP00000498829.1:n.*16-77A>T
ENST00000651658.1:n.2495A>T
ENST00000651723.1:c.*2035A>T	ENSP00000498237.1:n.*2035A>T
ENST00000652016.1:c.*89-77A>T	ENSP00000498267.1:n.*89-77A>T
ENST00000652485.1:c.1985A>T	ENSP00000498973.1:p.Lys662Ile
ENST00000378823.7:c.1952A>T	ENSP00000368100.4:p.Lys651Ile
ENST00000423956.5:c.*138A>T	ENSP00000390971.1:n.*138A>T
ENST00000453394.5:c.1769A>T	ENSP00000400049.1:p.Lys590Ile
ENST00000533482.5:c.*1578A>T	ENSP00000431225.1:n.*1578A>T
NM_005732.3:c.1952A>T	NP_005723.2:p.Lys651Ile
NM_005732.4:c.1952A>T MANE Select	NP_005723.2:p.Lys651Ile