Canonical Allele Identifier: CA360947990

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930655T>C (hg19) ; chr5:g.132594963T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594963T>C , CM000667.2:g.132594963T>C	GRCh38
NC_000005.9:g.131930655T>C , CM000667.1:g.131930655T>C	GRCh37
NC_000005.8:g.131958554T>C	NCBI36
NG_021151.1:g.43040T>C
NG_021151.2:g.42987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1888T>C MANE Select	ENSP00000368100.4:p.Phe630Leu
ENST00000638452.2:c.1591T>C	ENSP00000492349.2:p.Phe531Leu
ENST00000638504.1:n.1480-141T>C
ENST00000638568.2:c.1591T>C	ENSP00000491158.2:p.Phe531Leu
ENST00000639899.1:n.2407T>C
ENST00000640655.2:c.1591T>C	ENSP00000491596.2:p.Phe531Leu
ENST00000651160.1:c.*16-141T>C	ENSP00000498829.1:n.*16-141T>C
ENST00000651658.1:n.2431T>C
ENST00000651723.1:c.*1971T>C	ENSP00000498237.1:n.*1971T>C
ENST00000652016.1:c.*89-141T>C	ENSP00000498267.1:n.*89-141T>C
ENST00000652485.1:c.1921T>C	ENSP00000498973.1:p.Phe641Leu
ENST00000378823.7:c.1888T>C	ENSP00000368100.4:p.Phe630Leu
ENST00000423956.5:c.*74T>C	ENSP00000390971.1:n.*74T>C
ENST00000453394.5:c.1705T>C	ENSP00000400049.1:p.Phe569Leu
ENST00000533482.5:c.*1514T>C	ENSP00000431225.1:n.*1514T>C
NM_005732.3:c.1888T>C	NP_005723.2:p.Phe630Leu
NM_005732.4:c.1888T>C MANE Select	NP_005723.2:p.Phe630Leu