Canonical Allele Identifier: CA360948320

Gene: RAD50

Linked Data

• ClinVar Variation Id: 870651
• ClinVar RCV Id: RCV001090214
• dbSNP Id: rs1750764737
• MyVariant Identifiers: chr5:g.131930695A>T (hg19) ; chr5:g.132595003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595003A>T , CM000667.2:g.132595003A>T	GRCh38
NC_000005.9:g.131930695A>T , CM000667.1:g.131930695A>T	GRCh37
NC_000005.8:g.131958594A>T	NCBI36
NG_021151.1:g.43080A>T
NG_021151.2:g.43027A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1928A>T MANE Select	ENSP00000368100.4:p.Asp643Val
ENST00000638452.2:c.1631A>T	ENSP00000492349.2:p.Asp544Val
ENST00000638504.1:n.1480-101A>T
ENST00000638568.2:c.1631A>T	ENSP00000491158.2:p.Asp544Val
ENST00000639899.1:n.2447A>T
ENST00000640655.2:c.1631A>T	ENSP00000491596.2:p.Asp544Val
ENST00000651160.1:c.*16-101A>T	ENSP00000498829.1:n.*16-101A>T
ENST00000651658.1:n.2471A>T
ENST00000651723.1:c.*2011A>T	ENSP00000498237.1:n.*2011A>T
ENST00000652016.1:c.*89-101A>T	ENSP00000498267.1:n.*89-101A>T
ENST00000652485.1:c.1961A>T	ENSP00000498973.1:p.Asp654Val
ENST00000378823.7:c.1928A>T	ENSP00000368100.4:p.Asp643Val
ENST00000423956.5:c.*114A>T	ENSP00000390971.1:n.*114A>T
ENST00000453394.5:c.1745A>T	ENSP00000400049.1:p.Asp582Val
ENST00000533482.5:c.*1554A>T	ENSP00000431225.1:n.*1554A>T
NM_005732.3:c.1928A>T	NP_005723.2:p.Asp643Val
NM_005732.4:c.1928A>T MANE Select	NP_005723.2:p.Asp643Val