Canonical Allele Identifier: CA360959987

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944889C>A (hg19) ; chr5:g.132609197C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609197C>A , CM000667.2:g.132609197C>A	GRCh38
NC_000005.9:g.131944889C>A , CM000667.1:g.131944889C>A	GRCh37
NC_000005.8:g.131972788C>A	NCBI36
NG_021151.1:g.57274C>A
NG_021151.2:g.57221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2910C>A MANE Select	ENSP00000368100.4:p.Asp970Glu
ENST00000638452.2:c.2613C>A	ENSP00000492349.2:p.Asp871Glu
ENST00000638504.1:n.2518C>A
ENST00000638568.2:c.2613C>A	ENSP00000491158.2:p.Asp871Glu
ENST00000639899.1:n.3429C>A
ENST00000640655.2:c.2613C>A	ENSP00000491596.2:p.Asp871Glu
ENST00000651160.1:c.*1054C>A	ENSP00000498829.1:n.*1054C>A
ENST00000651723.1:c.*2993C>A	ENSP00000498237.1:n.*2993C>A
ENST00000378823.7:c.2910C>A	ENSP00000368100.4:p.Asp970Glu
ENST00000423956.5:c.*1096C>A	ENSP00000390971.1:n.*1096C>A
ENST00000533482.5:c.*2536C>A	ENSP00000431225.1:n.*2536C>A
NM_005732.3:c.2910C>A	NP_005723.2:p.Asp970Glu
NM_005732.4:c.2910C>A MANE Select	NP_005723.2:p.Asp970Glu