Canonical Allele Identifier: CA446363116

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931347T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595655T>C , CM000667.2:g.132595655T>C	GRCh38
NC_000005.9:g.131931347T>C , CM000667.1:g.131931347T>C	GRCh37
NC_000005.8:g.131959246T>C	NCBI36
NG_021151.1:g.43732T>C
NG_021151.2:g.43679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2052T>C MANE Select	ENSP00000368100.4:p.Cys684=
ENST00000638452.2:c.1755T>C	ENSP00000492349.2:p.Cys585=
ENST00000638504.1:n.1660T>C
ENST00000638568.2:c.1755T>C	ENSP00000491158.2:p.Cys585=
ENST00000639899.1:n.2571T>C
ENST00000640655.2:c.1755T>C	ENSP00000491596.2:p.Cys585=
ENST00000651160.1:c.*196T>C	ENSP00000498829.1:n.*196T>C
ENST00000651658.1:n.2595T>C
ENST00000651723.1:c.*2135T>C	ENSP00000498237.1:n.*2135T>C
ENST00000652016.1:c.*269T>C	ENSP00000498267.1:n.*269T>C
ENST00000652485.1:c.2085T>C	ENSP00000498973.1:p.Cys695=
ENST00000378823.7:c.2052T>C	ENSP00000368100.4:p.Cys684=
ENST00000423956.5:c.*238T>C	ENSP00000390971.1:n.*238T>C
ENST00000453394.5:c.1869T>C	ENSP00000400049.1:p.Cys623=
ENST00000496204.1:n.135T>C
ENST00000533482.5:c.*1678T>C	ENSP00000431225.1:n.*1678T>C
NM_005732.3:c.2052T>C	NP_005723.2:p.Cys684=
NM_005732.4:c.2052T>C MANE Select	NP_005723.2:p.Cys684=