Canonical Allele Identifier: CA446364133

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604933-T-C
• MyVariant Identifiers: chr5:g.131940625T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604933T>C , CM000667.2:g.132604933T>C	GRCh38
NC_000005.9:g.131940625T>C , CM000667.1:g.131940625T>C	GRCh37
NC_000005.8:g.131968524T>C	NCBI36
NG_021151.1:g.53010T>C
NG_021151.2:g.52957T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2652T>C MANE Select	ENSP00000368100.4:p.Arg884=
ENST00000638452.2:c.2355T>C	ENSP00000492349.2:p.Arg785=
ENST00000638504.1:n.2260T>C
ENST00000638568.2:c.2355T>C	ENSP00000491158.2:p.Arg785=
ENST00000639899.1:n.3171T>C
ENST00000640655.2:c.2355T>C	ENSP00000491596.2:p.Arg785=
ENST00000651160.1:c.*796T>C	ENSP00000498829.1:n.*796T>C
ENST00000651723.1:c.*2735T>C	ENSP00000498237.1:n.*2735T>C
ENST00000652016.1:c.*869T>C	ENSP00000498267.1:n.*869T>C
ENST00000378823.7:c.2652T>C	ENSP00000368100.4:p.Arg884=
ENST00000423956.5:c.*838T>C	ENSP00000390971.1:n.*838T>C
ENST00000533482.5:c.*2278T>C	ENSP00000431225.1:n.*2278T>C
NM_005732.3:c.2652T>C	NP_005723.2:p.Arg884=
NM_005732.4:c.2652T>C MANE Select	NP_005723.2:p.Arg884=