Canonical Allele Identifier: CA446495345

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131945049A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609357A>G , CM000667.2:g.132609357A>G	GRCh38
NC_000005.9:g.131945049A>G , CM000667.1:g.131945049A>G	GRCh37
NC_000005.8:g.131972948A>G	NCBI36
NG_021151.1:g.57434A>G
NG_021151.2:g.57381A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2997A>G MANE Select	ENSP00000368100.4:p.Glu999=
ENST00000638452.2:c.2700A>G	ENSP00000492349.2:p.Glu900=
ENST00000638504.1:n.2605A>G
ENST00000638568.2:c.2700A>G	ENSP00000491158.2:p.Glu900=
ENST00000639899.1:n.3516A>G
ENST00000640655.2:c.2700A>G	ENSP00000491596.2:p.Glu900=
ENST00000651723.1:c.*3080A>G	ENSP00000498237.1:n.*3080A>G
ENST00000378823.7:c.2997A>G	ENSP00000368100.4:p.Glu999=
ENST00000533482.5:c.*2623A>G	ENSP00000431225.1:n.*2623A>G
NM_005732.3:c.2997A>G	NP_005723.2:p.Glu999=
NM_005732.4:c.2997A>G MANE Select	NP_005723.2:p.Glu999=