Canonical Allele Identifier: CA360955275

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939612A>C (hg19) ; chr5:g.132603920A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603920A>C , CM000667.2:g.132603920A>C	GRCh38
NC_000005.9:g.131939612A>C , CM000667.1:g.131939612A>C	GRCh37
NC_000005.8:g.131967511A>C	NCBI36
NG_021151.1:g.51997A>C
NG_021151.2:g.51944A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2398A>C MANE Select	ENSP00000368100.4:p.Met800Leu
ENST00000638452.2:c.2101A>C	ENSP00000492349.2:p.Met701Leu
ENST00000638504.1:n.2006A>C
ENST00000638568.2:c.2101A>C	ENSP00000491158.2:p.Met701Leu
ENST00000639899.1:n.2917A>C
ENST00000640655.2:c.2101A>C	ENSP00000491596.2:p.Met701Leu
ENST00000651160.1:c.*542A>C	ENSP00000498829.1:n.*542A>C
ENST00000651658.1:n.2941A>C
ENST00000651723.1:c.*2481A>C	ENSP00000498237.1:n.*2481A>C
ENST00000652016.1:c.*615A>C	ENSP00000498267.1:n.*615A>C
ENST00000652485.1:c.2431A>C	ENSP00000498973.1:p.Met811Leu
ENST00000378823.7:c.2398A>C	ENSP00000368100.4:p.Met800Leu
ENST00000423956.5:c.*584A>C	ENSP00000390971.1:n.*584A>C
ENST00000533482.5:c.*2024A>C	ENSP00000431225.1:n.*2024A>C
NM_005732.3:c.2398A>C	NP_005723.2:p.Met800Leu
NM_005732.4:c.2398A>C MANE Select	NP_005723.2:p.Met800Leu