Canonical Allele Identifier: CA360946288

Gene: RAD50

Linked Data

• dbSNP Id: rs2149842619
• MyVariant Identifiers: chr5:g.131927574C>G (hg19) ; chr5:g.132591882C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591882C>G , CM000667.2:g.132591882C>G	GRCh38
NC_000005.9:g.131927574C>G , CM000667.1:g.131927574C>G	GRCh37
NC_000005.8:g.131955473C>G	NCBI36
NG_021151.1:g.39959C>G
NG_021151.2:g.39906C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1641C>G MANE Select	ENSP00000368100.4:p.Asp547Glu
ENST00000638452.2:c.1344C>G	ENSP00000492349.2:p.Asp448Glu
ENST00000638504.1:n.1327C>G
ENST00000638568.2:c.1344C>G	ENSP00000491158.2:p.Asp448Glu
ENST00000639899.1:n.2160C>G
ENST00000640655.2:c.1344C>G	ENSP00000491596.2:p.Asp448Glu
ENST00000651160.1:c.1641C>G	ENSP00000498829.1:p.Asp547Glu
ENST00000651541.1:c.1344C>G	ENSP00000498795.1:p.Asp448Glu
ENST00000651658.1:n.2068C>G
ENST00000651723.1:c.*1724C>G	ENSP00000498237.1:n.*1724C>G
ENST00000652016.1:c.1641C>G	ENSP00000498267.1:p.Asp547Glu
ENST00000652485.1:c.1674C>G	ENSP00000498973.1:p.Asp558Glu
ENST00000378823.7:c.1641C>G	ENSP00000368100.4:p.Asp547Glu
ENST00000423956.5:c.1635+476C>G	ENSP00000390971.1:n.1635+476C>G
ENST00000434288.1:c.136C>G
ENST00000453394.5:c.1458C>G	ENSP00000400049.1:p.Asp486Glu
ENST00000533482.5:c.*1267C>G	ENSP00000431225.1:n.*1267C>G
NM_005732.3:c.1641C>G	NP_005723.2:p.Asp547Glu
NM_005732.4:c.1641C>G MANE Select	NP_005723.2:p.Asp547Glu