Canonical Allele Identifier: CA16611746

Gene: RAD50

Linked Data

• ClinVar Variation Id: 408425
• ClinVar RCV Id: RCV000464289
• dbSNP Id: rs1060501980
• MyVariant Identifiers: chr5:g.131915115C>T (hg19) ; chr5:g.132579423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579423C>T , CM000667.2:g.132579423C>T	GRCh38
NC_000005.9:g.131915115C>T , CM000667.1:g.131915115C>T	GRCh37
NC_000005.8:g.131943014C>T	NCBI36
NG_021151.1:g.27500C>T
NG_021151.2:g.27447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.472C>T MANE Select	ENSP00000368100.4:p.His158Tyr
ENST00000638452.2:c.175C>T	ENSP00000492349.2:p.His59Tyr
ENST00000638504.1:n.442+3495C>T
ENST00000638568.2:c.175C>T	ENSP00000491158.2:p.His59Tyr
ENST00000639899.1:n.632C>T
ENST00000640655.2:c.175C>T	ENSP00000491596.2:p.His59Tyr
ENST00000651160.1:c.472C>T	ENSP00000498829.1:p.His158Tyr
ENST00000651541.1:c.175C>T	ENSP00000498795.1:p.His59Tyr
ENST00000651658.1:n.540C>T
ENST00000651723.1:c.*555C>T	ENSP00000498237.1:n.*555C>T
ENST00000652016.1:c.472C>T	ENSP00000498267.1:p.His158Tyr
ENST00000652485.1:c.472C>T	ENSP00000498973.1:p.His158Tyr
ENST00000378823.7:c.472C>T	ENSP00000368100.4:p.His158Tyr
ENST00000416135.5:c.175C>T	ENSP00000389515.1:p.His59Tyr
ENST00000423956.5:c.472C>T	ENSP00000390971.1:p.His158Tyr
ENST00000453394.5:c.472C>T	ENSP00000400049.1:p.His158Tyr
ENST00000533482.5:c.*98C>T	ENSP00000431225.1:n.*98C>T
NM_005732.3:c.472C>T	NP_005723.2:p.His158Tyr
NM_005732.4:c.472C>T MANE Select	NP_005723.2:p.His158Tyr