Canonical Allele Identifier: CA360956988

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940683G>A (hg19) ; chr5:g.132604991G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604991G>A , CM000667.2:g.132604991G>A	GRCh38
NC_000005.9:g.131940683G>A , CM000667.1:g.131940683G>A	GRCh37
NC_000005.8:g.131968582G>A	NCBI36
NG_021151.1:g.53068G>A
NG_021151.2:g.53015G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2710G>A MANE Select	ENSP00000368100.4:p.Glu904Lys
ENST00000638452.2:c.2413G>A	ENSP00000492349.2:p.Glu805Lys
ENST00000638504.1:n.2318G>A
ENST00000638568.2:c.2413G>A	ENSP00000491158.2:p.Glu805Lys
ENST00000639899.1:n.3229G>A
ENST00000640655.2:c.2413G>A	ENSP00000491596.2:p.Glu805Lys
ENST00000651160.1:c.*854G>A	ENSP00000498829.1:n.*854G>A
ENST00000651723.1:c.*2793G>A	ENSP00000498237.1:n.*2793G>A
ENST00000652016.1:c.*927G>A	ENSP00000498267.1:n.*927G>A
ENST00000378823.7:c.2710G>A	ENSP00000368100.4:p.Glu904Lys
ENST00000423956.5:c.*896G>A	ENSP00000390971.1:n.*896G>A
ENST00000533482.5:c.*2336G>A	ENSP00000431225.1:n.*2336G>A
NM_005732.3:c.2710G>A	NP_005723.2:p.Glu904Lys
NM_005732.4:c.2710G>A MANE Select	NP_005723.2:p.Glu904Lys