Canonical Allele Identifier: CA360956654

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1794078
• ClinVar RCV Id: RCV002452938
• MyVariant Identifiers: chr5:g.131940605T>C (hg19) ; chr5:g.132604913T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604913T>C , CM000667.2:g.132604913T>C	GRCh38
NC_000005.9:g.131940605T>C , CM000667.1:g.131940605T>C	GRCh37
NC_000005.8:g.131968504T>C	NCBI36
NG_021151.1:g.52990T>C
NG_021151.2:g.52937T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2632T>C MANE Select	ENSP00000368100.4:p.Ser878Pro
ENST00000638452.2:c.2335T>C	ENSP00000492349.2:p.Ser779Pro
ENST00000638504.1:n.2240T>C
ENST00000638568.2:c.2335T>C	ENSP00000491158.2:p.Ser779Pro
ENST00000639899.1:n.3151T>C
ENST00000640655.2:c.2335T>C	ENSP00000491596.2:p.Ser779Pro
ENST00000651160.1:c.*776T>C	ENSP00000498829.1:n.*776T>C
ENST00000651723.1:c.*2715T>C	ENSP00000498237.1:n.*2715T>C
ENST00000652016.1:c.*849T>C	ENSP00000498267.1:n.*849T>C
ENST00000652485.1:c.2665T>C	ENSP00000498973.1:p.Ser889Pro
ENST00000378823.7:c.2632T>C	ENSP00000368100.4:p.Ser878Pro
ENST00000423956.5:c.*818T>C	ENSP00000390971.1:n.*818T>C
ENST00000533482.5:c.*2258T>C	ENSP00000431225.1:n.*2258T>C
NM_005732.3:c.2632T>C	NP_005723.2:p.Ser878Pro
NM_005732.4:c.2632T>C MANE Select	NP_005723.2:p.Ser878Pro