Canonical Allele Identifier: CA446362029

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930615A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594923A>G , CM000667.2:g.132594923A>G	GRCh38
NC_000005.9:g.131930615A>G , CM000667.1:g.131930615A>G	GRCh37
NC_000005.8:g.131958514A>G	NCBI36
NG_021151.1:g.43000A>G
NG_021151.2:g.42947A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1848A>G MANE Select	ENSP00000368100.4:p.Lys616=
ENST00000638452.2:c.1551A>G	ENSP00000492349.2:p.Lys517=
ENST00000638504.1:n.1480-181A>G
ENST00000638568.2:c.1551A>G	ENSP00000491158.2:p.Lys517=
ENST00000639899.1:n.2367A>G
ENST00000640655.2:c.1551A>G	ENSP00000491596.2:p.Lys517=
ENST00000651160.1:c.*16-181A>G	ENSP00000498829.1:n.*16-181A>G
ENST00000651658.1:n.2391A>G
ENST00000651723.1:c.*1931A>G	ENSP00000498237.1:n.*1931A>G
ENST00000652016.1:c.*89-181A>G	ENSP00000498267.1:n.*89-181A>G
ENST00000652485.1:c.1881A>G	ENSP00000498973.1:p.Lys627=
ENST00000378823.7:c.1848A>G	ENSP00000368100.4:p.Lys616=
ENST00000423956.5:c.*34A>G	ENSP00000390971.1:n.*34A>G
ENST00000453394.5:c.1665A>G	ENSP00000400049.1:p.Lys555=
ENST00000533482.5:c.*1474A>G	ENSP00000431225.1:n.*1474A>G
NM_005732.3:c.1848A>G	NP_005723.2:p.Lys616=
NM_005732.4:c.1848A>G MANE Select	NP_005723.2:p.Lys616=