Canonical Allele Identifier: CA360947696

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1018951
• ClinVar RCV Id: RCV001318317
• dbSNP Id: rs878854788
• MyVariant Identifiers: chr5:g.131930614A>C (hg19) ; chr5:g.132594922A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594922A>C , CM000667.2:g.132594922A>C	GRCh38
NC_000005.9:g.131930614A>C , CM000667.1:g.131930614A>C	GRCh37
NC_000005.8:g.131958513A>C	NCBI36
NG_021151.1:g.42999A>C
NG_021151.2:g.42946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1847A>C MANE Select	ENSP00000368100.4:p.Lys616Thr
ENST00000638452.2:c.1550A>C	ENSP00000492349.2:p.Lys517Thr
ENST00000638504.1:n.1480-182A>C
ENST00000638568.2:c.1550A>C	ENSP00000491158.2:p.Lys517Thr
ENST00000639899.1:n.2366A>C
ENST00000640655.2:c.1550A>C	ENSP00000491596.2:p.Lys517Thr
ENST00000651160.1:c.*16-182A>C	ENSP00000498829.1:n.*16-182A>C
ENST00000651658.1:n.2390A>C
ENST00000651723.1:c.*1930A>C	ENSP00000498237.1:n.*1930A>C
ENST00000652016.1:c.*89-182A>C	ENSP00000498267.1:n.*89-182A>C
ENST00000652485.1:c.1880A>C	ENSP00000498973.1:p.Lys627Thr
ENST00000378823.7:c.1847A>C	ENSP00000368100.4:p.Lys616Thr
ENST00000423956.5:c.*33A>C	ENSP00000390971.1:n.*33A>C
ENST00000453394.5:c.1664A>C	ENSP00000400049.1:p.Lys555Thr
ENST00000533482.5:c.*1473A>C	ENSP00000431225.1:n.*1473A>C
NM_005732.3:c.1847A>C	NP_005723.2:p.Lys616Thr
NM_005732.4:c.1847A>C MANE Select	NP_005723.2:p.Lys616Thr