Canonical Allele Identifier: CA360955350

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939626T>A (hg19) ; chr5:g.132603934T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603934T>A , CM000667.2:g.132603934T>A	GRCh38
NC_000005.9:g.131939626T>A , CM000667.1:g.131939626T>A	GRCh37
NC_000005.8:g.131967525T>A	NCBI36
NG_021151.1:g.52011T>A
NG_021151.2:g.51958T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2412T>A MANE Select	ENSP00000368100.4:p.Asp804Glu
ENST00000638452.2:c.2115T>A	ENSP00000492349.2:p.Asp705Glu
ENST00000638504.1:n.2020T>A
ENST00000638568.2:c.2115T>A	ENSP00000491158.2:p.Asp705Glu
ENST00000639899.1:n.2931T>A
ENST00000640655.2:c.2115T>A	ENSP00000491596.2:p.Asp705Glu
ENST00000651160.1:c.*556T>A	ENSP00000498829.1:n.*556T>A
ENST00000651658.1:n.2955T>A
ENST00000651723.1:c.*2495T>A	ENSP00000498237.1:n.*2495T>A
ENST00000652016.1:c.*629T>A	ENSP00000498267.1:n.*629T>A
ENST00000652485.1:c.2445T>A	ENSP00000498973.1:p.Asp815Glu
ENST00000378823.7:c.2412T>A	ENSP00000368100.4:p.Asp804Glu
ENST00000423956.5:c.*598T>A	ENSP00000390971.1:n.*598T>A
ENST00000533482.5:c.*2038T>A	ENSP00000431225.1:n.*2038T>A
NM_005732.3:c.2412T>A	NP_005723.2:p.Asp804Glu
NM_005732.4:c.2412T>A MANE Select	NP_005723.2:p.Asp804Glu