Canonical Allele Identifier: CA360959755

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944864A>C (hg19) ; chr5:g.132609172A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609172A>C , CM000667.2:g.132609172A>C	GRCh38
NC_000005.9:g.131944864A>C , CM000667.1:g.131944864A>C	GRCh37
NC_000005.8:g.131972763A>C	NCBI36
NG_021151.1:g.57249A>C
NG_021151.2:g.57196A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2885A>C MANE Select	ENSP00000368100.4:p.Glu962Ala
ENST00000638452.2:c.2588A>C	ENSP00000492349.2:p.Glu863Ala
ENST00000638504.1:n.2493A>C
ENST00000638568.2:c.2588A>C	ENSP00000491158.2:p.Glu863Ala
ENST00000639899.1:n.3404A>C
ENST00000640655.2:c.2588A>C	ENSP00000491596.2:p.Glu863Ala
ENST00000651160.1:c.*1029A>C	ENSP00000498829.1:n.*1029A>C
ENST00000651723.1:c.*2968A>C	ENSP00000498237.1:n.*2968A>C
ENST00000378823.7:c.2885A>C	ENSP00000368100.4:p.Glu962Ala
ENST00000423956.5:c.*1071A>C	ENSP00000390971.1:n.*1071A>C
ENST00000533482.5:c.*2511A>C	ENSP00000431225.1:n.*2511A>C
NM_005732.3:c.2885A>C	NP_005723.2:p.Glu962Ala
NM_005732.4:c.2885A>C MANE Select	NP_005723.2:p.Glu962Ala