Canonical Allele Identifier: CA446362148

Gene: RAD50

Linked Data

• ClinVar Variation Id: 820309
• ClinVar RCV Id: RCV001013626
• dbSNP Id: rs1580996511
• MyVariant Identifiers: chr5:g.131930669T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594977T>C , CM000667.2:g.132594977T>C	GRCh38
NC_000005.9:g.131930669T>C , CM000667.1:g.131930669T>C	GRCh37
NC_000005.8:g.131958568T>C	NCBI36
NG_021151.1:g.43054T>C
NG_021151.2:g.43001T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1902T>C MANE Select	ENSP00000368100.4:p.Gly634=
ENST00000638452.2:c.1605T>C	ENSP00000492349.2:p.Gly535=
ENST00000638504.1:n.1480-127T>C
ENST00000638568.2:c.1605T>C	ENSP00000491158.2:p.Gly535=
ENST00000639899.1:n.2421T>C
ENST00000640655.2:c.1605T>C	ENSP00000491596.2:p.Gly535=
ENST00000651160.1:c.*16-127T>C	ENSP00000498829.1:n.*16-127T>C
ENST00000651658.1:n.2445T>C
ENST00000651723.1:c.*1985T>C	ENSP00000498237.1:n.*1985T>C
ENST00000652016.1:c.*89-127T>C	ENSP00000498267.1:n.*89-127T>C
ENST00000652485.1:c.1935T>C	ENSP00000498973.1:p.Gly645=
ENST00000378823.7:c.1902T>C	ENSP00000368100.4:p.Gly634=
ENST00000423956.5:c.*88T>C	ENSP00000390971.1:n.*88T>C
ENST00000453394.5:c.1719T>C	ENSP00000400049.1:p.Gly573=
ENST00000533482.5:c.*1528T>C	ENSP00000431225.1:n.*1528T>C
NM_005732.3:c.1902T>C	NP_005723.2:p.Gly634=
NM_005732.4:c.1902T>C MANE Select	NP_005723.2:p.Gly634=