Canonical Allele Identifier: CA360956652

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1422914
• ClinVar RCV Id: RCV001926338
• dbSNP Id: rs2149847791
• MyVariant Identifiers: chr5:g.131940605T>G (hg19) ; chr5:g.132604913T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2632T>G MANE Select	ENSP00000368100.4:p.Ser878Ala
ENST00000638452.2:c.2335T>G	ENSP00000492349.2:p.Ser779Ala
ENST00000638504.1:n.2240T>G
ENST00000638568.2:c.2335T>G	ENSP00000491158.2:p.Ser779Ala
ENST00000639899.1:n.3151T>G
ENST00000640655.2:c.2335T>G	ENSP00000491596.2:p.Ser779Ala
ENST00000651160.1:c.*776T>G	ENSP00000498829.1:n.*776T>G
ENST00000651723.1:c.*2715T>G	ENSP00000498237.1:n.*2715T>G
ENST00000652016.1:c.*849T>G	ENSP00000498267.1:n.*849T>G
ENST00000652485.1:c.2665T>G	ENSP00000498973.1:p.Ser889Ala
ENST00000378823.7:c.2632T>G	ENSP00000368100.4:p.Ser878Ala
ENST00000423956.5:c.*818T>G	ENSP00000390971.1:n.*818T>G
ENST00000533482.5:c.*2258T>G	ENSP00000431225.1:n.*2258T>G
NM_005732.3:c.2632T>G	NP_005723.2:p.Ser878Ala
NM_005732.4:c.2632T>G MANE Select	NP_005723.2:p.Ser878Ala