Canonical Allele Identifier: CA360948682

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1496587
• ClinVar RCV Id: RCV001991956
• dbSNP Id: rs587782078
• MyVariant Identifiers: chr5:g.131930737G>C (hg19) ; chr5:g.132595045G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595045G>C , CM000667.2:g.132595045G>C	GRCh38
NC_000005.9:g.131930737G>C , CM000667.1:g.131930737G>C	GRCh37
NC_000005.8:g.131958636G>C	NCBI36
NG_021151.1:g.43122G>C
NG_021151.2:g.43069G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1969+1G>C MANE Select	ENSP00000368100.4:n.1969+1G>C
ENST00000638452.2:c.1672+1G>C	ENSP00000492349.2:n.1672+1G>C
ENST00000638504.1:n.1480-59G>C
ENST00000638568.2:c.1672+1G>C	ENSP00000491158.2:n.1672+1G>C
ENST00000639899.1:n.2488+1G>C
ENST00000640655.2:c.1672+1G>C	ENSP00000491596.2:n.1672+1G>C
ENST00000651160.1:c.*16-59G>C	ENSP00000498829.1:n.*16-59G>C
ENST00000651658.1:n.2512+1G>C
ENST00000651723.1:c.*2052+1G>C	ENSP00000498237.1:n.*2052+1G>C
ENST00000652016.1:c.*89-59G>C	ENSP00000498267.1:n.*89-59G>C
ENST00000652485.1:c.2002+1G>C	ENSP00000498973.1:n.2002+1G>C
ENST00000378823.7:c.1969+1G>C	ENSP00000368100.4:n.1969+1G>C
ENST00000423956.5:c.*155+1G>C	ENSP00000390971.1:n.*155+1G>C
ENST00000453394.5:c.1786+1G>C	ENSP00000400049.1:n.1786+1G>C
ENST00000533482.5:c.*1595+1G>C	ENSP00000431225.1:n.*1595+1G>C
NM_005732.3:c.1969+1G>C	NP_005723.2:n.1969+1G>C
NM_005732.4:c.1969+1G>C MANE Select	NP_005723.2:n.1969+1G>C