Canonical Allele Identifier: CA446364124

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940610T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604918T>G , CM000667.2:g.132604918T>G	GRCh38
NC_000005.9:g.131940610T>G , CM000667.1:g.131940610T>G	GRCh37
NC_000005.8:g.131968509T>G	NCBI36
NG_021151.1:g.52995T>G
NG_021151.2:g.52942T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2637T>G MANE Select	ENSP00000368100.4:p.Thr879=
ENST00000638452.2:c.2340T>G	ENSP00000492349.2:p.Thr780=
ENST00000638504.1:n.2245T>G
ENST00000638568.2:c.2340T>G	ENSP00000491158.2:p.Thr780=
ENST00000639899.1:n.3156T>G
ENST00000640655.2:c.2340T>G	ENSP00000491596.2:p.Thr780=
ENST00000651160.1:c.*781T>G	ENSP00000498829.1:n.*781T>G
ENST00000651723.1:c.*2720T>G	ENSP00000498237.1:n.*2720T>G
ENST00000652016.1:c.*854T>G	ENSP00000498267.1:n.*854T>G
ENST00000652485.1:c.2670T>G	ENSP00000498973.1:p.Thr890=
ENST00000378823.7:c.2637T>G	ENSP00000368100.4:p.Thr879=
ENST00000423956.5:c.*823T>G	ENSP00000390971.1:n.*823T>G
ENST00000533482.5:c.*2263T>G	ENSP00000431225.1:n.*2263T>G
NM_005732.3:c.2637T>G	NP_005723.2:p.Thr879=
NM_005732.4:c.2637T>G MANE Select	NP_005723.2:p.Thr879=