Canonical Allele Identifier: CA360959682

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944853G>C (hg19) ; chr5:g.132609161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609161G>C , CM000667.2:g.132609161G>C	GRCh38
NC_000005.9:g.131944853G>C , CM000667.1:g.131944853G>C	GRCh37
NC_000005.8:g.131972752G>C	NCBI36
NG_021151.1:g.57238G>C
NG_021151.2:g.57185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2874G>C MANE Select	ENSP00000368100.4:p.Met958Ile
ENST00000638452.2:c.2577G>C	ENSP00000492349.2:p.Met859Ile
ENST00000638504.1:n.2482G>C
ENST00000638568.2:c.2577G>C	ENSP00000491158.2:p.Met859Ile
ENST00000639899.1:n.3393G>C
ENST00000640655.2:c.2577G>C	ENSP00000491596.2:p.Met859Ile
ENST00000651160.1:c.*1018G>C	ENSP00000498829.1:n.*1018G>C
ENST00000651723.1:c.*2957G>C	ENSP00000498237.1:n.*2957G>C
ENST00000378823.7:c.2874G>C	ENSP00000368100.4:p.Met958Ile
ENST00000423956.5:c.*1060G>C	ENSP00000390971.1:n.*1060G>C
ENST00000533482.5:c.*2500G>C	ENSP00000431225.1:n.*2500G>C
NM_005732.3:c.2874G>C	NP_005723.2:p.Met958Ile
NM_005732.4:c.2874G>C MANE Select	NP_005723.2:p.Met958Ile