Canonical Allele Identifier: CA360959359

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944813A>C (hg19) ; chr5:g.132609121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609121A>C , CM000667.2:g.132609121A>C	GRCh38
NC_000005.9:g.131944813A>C , CM000667.1:g.131944813A>C	GRCh37
NC_000005.8:g.131972712A>C	NCBI36
NG_021151.1:g.57198A>C
NG_021151.2:g.57145A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2834A>C MANE Select	ENSP00000368100.4:p.Asn945Thr
ENST00000638452.2:c.2537A>C	ENSP00000492349.2:p.Asn846Thr
ENST00000638504.1:n.2442A>C
ENST00000638568.2:c.2537A>C	ENSP00000491158.2:p.Asn846Thr
ENST00000639899.1:n.3353A>C
ENST00000640655.2:c.2537A>C	ENSP00000491596.2:p.Asn846Thr
ENST00000651160.1:c.*978A>C	ENSP00000498829.1:n.*978A>C
ENST00000651723.1:c.*2917A>C	ENSP00000498237.1:n.*2917A>C
ENST00000378823.7:c.2834A>C	ENSP00000368100.4:p.Asn945Thr
ENST00000423956.5:c.*1020A>C	ENSP00000390971.1:n.*1020A>C
ENST00000533482.5:c.*2460A>C	ENSP00000431225.1:n.*2460A>C
NM_005732.3:c.2834A>C	NP_005723.2:p.Asn945Thr
NM_005732.4:c.2834A>C MANE Select	NP_005723.2:p.Asn945Thr