Canonical Allele Identifier: CA360936561

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1756114
• ClinVar RCV Id: RCV002378084
• MyVariant Identifiers: chr5:g.131915692G>C (hg19) ; chr5:g.132580000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132580000G>C , CM000667.2:g.132580000G>C	GRCh38
NC_000005.9:g.131915692G>C , CM000667.1:g.131915692G>C	GRCh37
NC_000005.8:g.131943591G>C	NCBI36
NG_021151.1:g.28077G>C
NG_021151.2:g.28024G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.690G>C MANE Select	ENSP00000368100.4:p.Lys230Asn
ENST00000638452.2:c.393G>C	ENSP00000492349.2:p.Lys131Asn
ENST00000638504.1:n.442+4072G>C
ENST00000638568.2:c.393G>C	ENSP00000491158.2:p.Lys131Asn
ENST00000639899.1:n.1209G>C
ENST00000640655.2:c.393G>C	ENSP00000491596.2:p.Lys131Asn
ENST00000651160.1:c.690G>C	ENSP00000498829.1:p.Lys230Asn
ENST00000651541.1:c.393G>C	ENSP00000498795.1:p.Lys131Asn
ENST00000651658.1:n.1117G>C
ENST00000651723.1:c.*773G>C	ENSP00000498237.1:n.*773G>C
ENST00000652016.1:c.690G>C	ENSP00000498267.1:p.Lys230Asn
ENST00000652485.1:c.690G>C	ENSP00000498973.1:p.Lys230Asn
ENST00000378823.7:c.690G>C	ENSP00000368100.4:p.Lys230Asn
ENST00000423956.5:c.690G>C	ENSP00000390971.1:p.Lys230Asn
ENST00000453394.5:c.690G>C	ENSP00000400049.1:p.Lys230Asn
ENST00000487596.1:n.256G>C
ENST00000533482.5:c.*316G>C	ENSP00000431225.1:n.*316G>C
NM_005732.3:c.690G>C	NP_005723.2:p.Lys230Asn
NM_005732.4:c.690G>C MANE Select	NP_005723.2:p.Lys230Asn