Canonical Allele Identifier: CA360933354

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1495936
• ClinVar RCV Id: RCV001991635
• dbSNP Id: rs2149837691
• gnomAD v4: 5-132579329-G-C
• MyVariant Identifiers: chr5:g.131915021G>C (hg19) ; chr5:g.132579329G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579329G>C , CM000667.2:g.132579329G>C	GRCh38
NC_000005.9:g.131915021G>C , CM000667.1:g.131915021G>C	GRCh37
NC_000005.8:g.131942920G>C	NCBI36
NG_021151.1:g.27406G>C
NG_021151.2:g.27353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.378G>C MANE Select	ENSP00000368100.4:p.Lys126Asn
ENST00000638452.2:c.81G>C	ENSP00000492349.2:p.Lys27Asn
ENST00000638504.1:n.442+3401G>C
ENST00000638568.2:c.81G>C	ENSP00000491158.2:p.Lys27Asn
ENST00000639899.1:n.538G>C
ENST00000640655.2:c.81G>C	ENSP00000491596.2:p.Lys27Asn
ENST00000651160.1:c.378G>C	ENSP00000498829.1:p.Lys126Asn
ENST00000651541.1:c.81G>C	ENSP00000498795.1:p.Lys27Asn
ENST00000651658.1:n.446G>C
ENST00000651723.1:c.*461G>C	ENSP00000498237.1:n.*461G>C
ENST00000652016.1:c.378G>C	ENSP00000498267.1:p.Lys126Asn
ENST00000652485.1:c.378G>C	ENSP00000498973.1:p.Lys126Asn
ENST00000378823.7:c.378G>C	ENSP00000368100.4:p.Lys126Asn
ENST00000416135.5:c.81G>C	ENSP00000389515.1:p.Lys27Asn
ENST00000423956.5:c.378G>C	ENSP00000390971.1:p.Lys126Asn
ENST00000453394.5:c.378G>C	ENSP00000400049.1:p.Lys126Asn
ENST00000533482.5:c.*4G>C	ENSP00000431225.1:n.*4G>C
NM_005732.3:c.378G>C	NP_005723.2:p.Lys126Asn
NM_005732.4:c.378G>C MANE Select	NP_005723.2:p.Lys126Asn