Canonical Allele Identifier: CA360959440

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944825A>T (hg19) ; chr5:g.132609133A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609133A>T , CM000667.2:g.132609133A>T	GRCh38
NC_000005.9:g.131944825A>T , CM000667.1:g.131944825A>T	GRCh37
NC_000005.8:g.131972724A>T	NCBI36
NG_021151.1:g.57210A>T
NG_021151.2:g.57157A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2846A>T MANE Select	ENSP00000368100.4:p.Glu949Val
ENST00000638452.2:c.2549A>T	ENSP00000492349.2:p.Glu850Val
ENST00000638504.1:n.2454A>T
ENST00000638568.2:c.2549A>T	ENSP00000491158.2:p.Glu850Val
ENST00000639899.1:n.3365A>T
ENST00000640655.2:c.2549A>T	ENSP00000491596.2:p.Glu850Val
ENST00000651160.1:c.*990A>T	ENSP00000498829.1:n.*990A>T
ENST00000651723.1:c.*2929A>T	ENSP00000498237.1:n.*2929A>T
ENST00000378823.7:c.2846A>T	ENSP00000368100.4:p.Glu949Val
ENST00000423956.5:c.*1032A>T	ENSP00000390971.1:n.*1032A>T
ENST00000533482.5:c.*2472A>T	ENSP00000431225.1:n.*2472A>T
NM_005732.3:c.2846A>T	NP_005723.2:p.Glu949Val
NM_005732.4:c.2846A>T MANE Select	NP_005723.2:p.Glu949Val