Canonical Allele Identifier: CA360946577

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131927672T>C (hg19) ; chr5:g.132591980T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591980T>C , CM000667.2:g.132591980T>C	GRCh38
NC_000005.9:g.131927672T>C , CM000667.1:g.131927672T>C	GRCh37
NC_000005.8:g.131955571T>C	NCBI36
NG_021151.1:g.40057T>C
NG_021151.2:g.40004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1739T>C MANE Select	ENSP00000368100.4:p.Leu580Pro
ENST00000638452.2:c.1442T>C	ENSP00000492349.2:p.Leu481Pro
ENST00000638504.1:n.1425T>C
ENST00000638568.2:c.1442T>C	ENSP00000491158.2:p.Leu481Pro
ENST00000639899.1:n.2258T>C
ENST00000640655.2:c.1442T>C	ENSP00000491596.2:p.Leu481Pro
ENST00000651160.1:c.1739T>C	ENSP00000498829.1:p.Leu580Pro
ENST00000651541.1:c.1442T>C	ENSP00000498795.1:p.Leu481Pro
ENST00000651658.1:n.2166T>C
ENST00000651723.1:c.*1822T>C	ENSP00000498237.1:n.*1822T>C
ENST00000652016.1:c.1739T>C	ENSP00000498267.1:p.Leu580Pro
ENST00000652485.1:c.1772T>C	ENSP00000498973.1:p.Leu591Pro
ENST00000378823.7:c.1739T>C	ENSP00000368100.4:p.Leu580Pro
ENST00000423956.5:c.1635+574T>C	ENSP00000390971.1:n.1635+574T>C
ENST00000434288.1:c.234T>C
ENST00000453394.5:c.1556T>C	ENSP00000400049.1:p.Leu519Pro
ENST00000533482.5:c.*1365T>C	ENSP00000431225.1:n.*1365T>C
NM_005732.3:c.1739T>C	NP_005723.2:p.Leu580Pro
NM_005732.4:c.1739T>C MANE Select	NP_005723.2:p.Leu580Pro