Canonical Allele Identifier: CA360947456

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930581A>C (hg19) ; chr5:g.132594889A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594889A>C , CM000667.2:g.132594889A>C	GRCh38
NC_000005.9:g.131930581A>C , CM000667.1:g.131930581A>C	GRCh37
NC_000005.8:g.131958480A>C	NCBI36
NG_021151.1:g.42966A>C
NG_021151.2:g.42913A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1814A>C MANE Select	ENSP00000368100.4:p.Glu605Ala
ENST00000638452.2:c.1517A>C	ENSP00000492349.2:p.Glu506Ala
ENST00000638504.1:n.1480-215A>C
ENST00000638568.2:c.1517A>C	ENSP00000491158.2:p.Glu506Ala
ENST00000639899.1:n.2333A>C
ENST00000640655.2:c.1517A>C	ENSP00000491596.2:p.Glu506Ala
ENST00000651160.1:c.*16-215A>C	ENSP00000498829.1:n.*16-215A>C
ENST00000651658.1:n.2357A>C
ENST00000651723.1:c.*1897A>C	ENSP00000498237.1:n.*1897A>C
ENST00000652016.1:c.*88+212A>C	ENSP00000498267.1:n.*88+212A>C
ENST00000652485.1:c.1847A>C	ENSP00000498973.1:p.Glu616Ala
ENST00000378823.7:c.1814A>C	ENSP00000368100.4:p.Glu605Ala
ENST00000423956.5:c.1656A>C	ENSP00000390971.1:p.Ter552Cys
ENST00000453394.5:c.1631A>C	ENSP00000400049.1:p.Glu544Ala
ENST00000533482.5:c.*1440A>C	ENSP00000431225.1:n.*1440A>C
NM_005732.3:c.1814A>C	NP_005723.2:p.Glu605Ala
NM_005732.4:c.1814A>C MANE Select	NP_005723.2:p.Glu605Ala