Canonical Allele Identifier: CA446495107

Gene: RAD50

Linked Data

• dbSNP Id: rs1751039142
• gnomAD v4: 5-132609188-T-C
• MyVariant Identifiers: chr5:g.131944880T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609188T>C , CM000667.2:g.132609188T>C	GRCh38
NC_000005.9:g.131944880T>C , CM000667.1:g.131944880T>C	GRCh37
NC_000005.8:g.131972779T>C	NCBI36
NG_021151.1:g.57265T>C
NG_021151.2:g.57212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2901T>C MANE Select	ENSP00000368100.4:p.Asp967=
ENST00000638452.2:c.2604T>C	ENSP00000492349.2:p.Asp868=
ENST00000638504.1:n.2509T>C
ENST00000638568.2:c.2604T>C	ENSP00000491158.2:p.Asp868=
ENST00000639899.1:n.3420T>C
ENST00000640655.2:c.2604T>C	ENSP00000491596.2:p.Asp868=
ENST00000651160.1:c.*1045T>C	ENSP00000498829.1:n.*1045T>C
ENST00000651723.1:c.*2984T>C	ENSP00000498237.1:n.*2984T>C
ENST00000378823.7:c.2901T>C	ENSP00000368100.4:p.Asp967=
ENST00000423956.5:c.*1087T>C	ENSP00000390971.1:n.*1087T>C
ENST00000533482.5:c.*2527T>C	ENSP00000431225.1:n.*2527T>C
NM_005732.3:c.2901T>C	NP_005723.2:p.Asp967=
NM_005732.4:c.2901T>C MANE Select	NP_005723.2:p.Asp967=