Canonical Allele Identifier: CA360956157

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821431
• ClinVar RCV Id: RCV001015842
• dbSNP Id: rs1581001995
• MyVariant Identifiers: chr5:g.131940500T>C (hg19) ; chr5:g.132604808T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604808T>C , CM000667.2:g.132604808T>C	GRCh38
NC_000005.9:g.131940500T>C , CM000667.1:g.131940500T>C	GRCh37
NC_000005.8:g.131968399T>C	NCBI36
NG_021151.1:g.52885T>C
NG_021151.2:g.52832T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2527T>C MANE Select	ENSP00000368100.4:p.Ser843Pro
ENST00000638452.2:c.2230T>C	ENSP00000492349.2:p.Ser744Pro
ENST00000638504.1:n.2135T>C
ENST00000638568.2:c.2230T>C	ENSP00000491158.2:p.Ser744Pro
ENST00000639899.1:n.3046T>C
ENST00000640655.2:c.2230T>C	ENSP00000491596.2:p.Ser744Pro
ENST00000651160.1:c.*671T>C	ENSP00000498829.1:n.*671T>C
ENST00000651723.1:c.*2610T>C	ENSP00000498237.1:n.*2610T>C
ENST00000652016.1:c.*744T>C	ENSP00000498267.1:n.*744T>C
ENST00000652485.1:c.2560T>C	ENSP00000498973.1:p.Ser854Pro
ENST00000378823.7:c.2527T>C	ENSP00000368100.4:p.Ser843Pro
ENST00000423956.5:c.*713T>C	ENSP00000390971.1:n.*713T>C
ENST00000533482.5:c.*2153T>C	ENSP00000431225.1:n.*2153T>C
NM_005732.3:c.2527T>C	NP_005723.2:p.Ser843Pro
NM_005732.4:c.2527T>C MANE Select	NP_005723.2:p.Ser843Pro