Canonical Allele Identifier: CA360956690

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940614T>G (hg19) ; chr5:g.132604922T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604922T>G , CM000667.2:g.132604922T>G	GRCh38
NC_000005.9:g.131940614T>G , CM000667.1:g.131940614T>G	GRCh37
NC_000005.8:g.131968513T>G	NCBI36
NG_021151.1:g.52999T>G
NG_021151.2:g.52946T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2641T>G MANE Select	ENSP00000368100.4:p.Leu881Val
ENST00000638452.2:c.2344T>G	ENSP00000492349.2:p.Leu782Val
ENST00000638504.1:n.2249T>G
ENST00000638568.2:c.2344T>G	ENSP00000491158.2:p.Leu782Val
ENST00000639899.1:n.3160T>G
ENST00000640655.2:c.2344T>G	ENSP00000491596.2:p.Leu782Val
ENST00000651160.1:c.*785T>G	ENSP00000498829.1:n.*785T>G
ENST00000651723.1:c.*2724T>G	ENSP00000498237.1:n.*2724T>G
ENST00000652016.1:c.*858T>G	ENSP00000498267.1:n.*858T>G
ENST00000652485.1:c.2674T>G	ENSP00000498973.1:p.Leu892Val
ENST00000378823.7:c.2641T>G	ENSP00000368100.4:p.Leu881Val
ENST00000423956.5:c.*827T>G	ENSP00000390971.1:n.*827T>G
ENST00000533482.5:c.*2267T>G	ENSP00000431225.1:n.*2267T>G
NM_005732.3:c.2641T>G	NP_005723.2:p.Leu881Val
NM_005732.4:c.2641T>G MANE Select	NP_005723.2:p.Leu881Val