Canonical Allele Identifier: CA360943699

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2557572
• ClinVar RCV Id: RCV004325365
• MyVariant Identifiers: chr5:g.131925371A>C (hg19) ; chr5:g.132589679A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589679A>C , CM000667.2:g.132589679A>C	GRCh38
NC_000005.9:g.131925371A>C , CM000667.1:g.131925371A>C	GRCh37
NC_000005.8:g.131953270A>C	NCBI36
NG_021151.1:g.37756A>C
NG_021151.2:g.37703A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1294A>C MANE Select	ENSP00000368100.4:p.Ile432Leu
ENST00000638452.2:c.997A>C	ENSP00000492349.2:p.Ile333Leu
ENST00000638504.1:n.980A>C
ENST00000638568.2:c.997A>C	ENSP00000491158.2:p.Ile333Leu
ENST00000639899.1:n.1813A>C
ENST00000640655.2:c.997A>C	ENSP00000491596.2:p.Ile333Leu
ENST00000651160.1:c.1294A>C	ENSP00000498829.1:p.Ile432Leu
ENST00000651541.1:c.997A>C	ENSP00000498795.1:p.Ile333Leu
ENST00000651658.1:n.1721A>C
ENST00000651723.1:c.*1377A>C	ENSP00000498237.1:n.*1377A>C
ENST00000652016.1:c.1294A>C	ENSP00000498267.1:p.Ile432Leu
ENST00000652485.1:c.1294A>C	ENSP00000498973.1:p.Ile432Leu
ENST00000378823.7:c.1294A>C	ENSP00000368100.4:p.Ile432Leu
ENST00000423956.5:c.1294A>C	ENSP00000390971.1:p.Ile432Leu
ENST00000453394.5:c.1294A>C	ENSP00000400049.1:p.Ile432Leu
ENST00000533482.5:c.*920A>C	ENSP00000431225.1:n.*920A>C
NM_005732.3:c.1294A>C	NP_005723.2:p.Ile432Leu
NM_005732.4:c.1294A>C MANE Select	NP_005723.2:p.Ile432Leu