Canonical Allele Identifier: CA360956599

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1323513
• ClinVar RCV Id: RCV001784896 ; RCV003746603
• dbSNP Id: rs2149847772
• MyVariant Identifiers: chr5:g.131940593A>T (hg19) ; chr5:g.132604901A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604901A>T , CM000667.2:g.132604901A>T	GRCh38
NC_000005.9:g.131940593A>T , CM000667.1:g.131940593A>T	GRCh37
NC_000005.8:g.131968492A>T	NCBI36
NG_021151.1:g.52978A>T
NG_021151.2:g.52925A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2620A>T MANE Select	ENSP00000368100.4:p.Lys874Ter
ENST00000638452.2:c.2323A>T	ENSP00000492349.2:p.Lys775Ter
ENST00000638504.1:n.2228A>T
ENST00000638568.2:c.2323A>T	ENSP00000491158.2:p.Lys775Ter
ENST00000639899.1:n.3139A>T
ENST00000640655.2:c.2323A>T	ENSP00000491596.2:p.Lys775Ter
ENST00000651160.1:c.*764A>T	ENSP00000498829.1:n.*764A>T
ENST00000651723.1:c.*2703A>T	ENSP00000498237.1:n.*2703A>T
ENST00000652016.1:c.*837A>T	ENSP00000498267.1:n.*837A>T
ENST00000652485.1:c.2653A>T	ENSP00000498973.1:p.Lys885Ter
ENST00000378823.7:c.2620A>T	ENSP00000368100.4:p.Lys874Ter
ENST00000423956.5:c.*806A>T	ENSP00000390971.1:n.*806A>T
ENST00000533482.5:c.*2246A>T	ENSP00000431225.1:n.*2246A>T
NM_005732.3:c.2620A>T	NP_005723.2:p.Lys874Ter
NM_005732.4:c.2620A>T MANE Select	NP_005723.2:p.Lys874Ter