Canonical Allele Identifier: CA360955332

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939623A>C (hg19) ; chr5:g.132603931A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603931A>C , CM000667.2:g.132603931A>C	GRCh38
NC_000005.9:g.131939623A>C , CM000667.1:g.131939623A>C	GRCh37
NC_000005.8:g.131967522A>C	NCBI36
NG_021151.1:g.52008A>C
NG_021151.2:g.51955A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2409A>C MANE Select	ENSP00000368100.4:p.Lys803Asn
ENST00000638452.2:c.2112A>C	ENSP00000492349.2:p.Lys704Asn
ENST00000638504.1:n.2017A>C
ENST00000638568.2:c.2112A>C	ENSP00000491158.2:p.Lys704Asn
ENST00000639899.1:n.2928A>C
ENST00000640655.2:c.2112A>C	ENSP00000491596.2:p.Lys704Asn
ENST00000651160.1:c.*553A>C	ENSP00000498829.1:n.*553A>C
ENST00000651658.1:n.2952A>C
ENST00000651723.1:c.*2492A>C	ENSP00000498237.1:n.*2492A>C
ENST00000652016.1:c.*626A>C	ENSP00000498267.1:n.*626A>C
ENST00000652485.1:c.2442A>C	ENSP00000498973.1:p.Lys814Asn
ENST00000378823.7:c.2409A>C	ENSP00000368100.4:p.Lys803Asn
ENST00000423956.5:c.*595A>C	ENSP00000390971.1:n.*595A>C
ENST00000533482.5:c.*2035A>C	ENSP00000431225.1:n.*2035A>C
NM_005732.3:c.2409A>C	NP_005723.2:p.Lys803Asn
NM_005732.4:c.2409A>C MANE Select	NP_005723.2:p.Lys803Asn