Canonical Allele Identifier: CA446364129

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940622T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604930T>A , CM000667.2:g.132604930T>A	GRCh38
NC_000005.9:g.131940622T>A , CM000667.1:g.131940622T>A	GRCh37
NC_000005.8:g.131968521T>A	NCBI36
NG_021151.1:g.53007T>A
NG_021151.2:g.52954T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2649T>A MANE Select	ENSP00000368100.4:p.Arg883=
ENST00000638452.2:c.2352T>A	ENSP00000492349.2:p.Arg784=
ENST00000638504.1:n.2257T>A
ENST00000638568.2:c.2352T>A	ENSP00000491158.2:p.Arg784=
ENST00000639899.1:n.3168T>A
ENST00000640655.2:c.2352T>A	ENSP00000491596.2:p.Arg784=
ENST00000651160.1:c.*793T>A	ENSP00000498829.1:n.*793T>A
ENST00000651723.1:c.*2732T>A	ENSP00000498237.1:n.*2732T>A
ENST00000652016.1:c.*866T>A	ENSP00000498267.1:n.*866T>A
ENST00000652485.1:c.2682T>A	ENSP00000498973.1:p.Arg894=
ENST00000378823.7:c.2649T>A	ENSP00000368100.4:p.Arg883=
ENST00000423956.5:c.*835T>A	ENSP00000390971.1:n.*835T>A
ENST00000533482.5:c.*2275T>A	ENSP00000431225.1:n.*2275T>A
NM_005732.3:c.2649T>A	NP_005723.2:p.Arg883=
NM_005732.4:c.2649T>A MANE Select	NP_005723.2:p.Arg883=