Canonical Allele Identifier: CA360955343

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939625A>C (hg19) ; chr5:g.132603933A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603933A>C , CM000667.2:g.132603933A>C	GRCh38
NC_000005.9:g.131939625A>C , CM000667.1:g.131939625A>C	GRCh37
NC_000005.8:g.131967524A>C	NCBI36
NG_021151.1:g.52010A>C
NG_021151.2:g.51957A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2411A>C MANE Select	ENSP00000368100.4:p.Asp804Ala
ENST00000638452.2:c.2114A>C	ENSP00000492349.2:p.Asp705Ala
ENST00000638504.1:n.2019A>C
ENST00000638568.2:c.2114A>C	ENSP00000491158.2:p.Asp705Ala
ENST00000639899.1:n.2930A>C
ENST00000640655.2:c.2114A>C	ENSP00000491596.2:p.Asp705Ala
ENST00000651160.1:c.*555A>C	ENSP00000498829.1:n.*555A>C
ENST00000651658.1:n.2954A>C
ENST00000651723.1:c.*2494A>C	ENSP00000498237.1:n.*2494A>C
ENST00000652016.1:c.*628A>C	ENSP00000498267.1:n.*628A>C
ENST00000652485.1:c.2444A>C	ENSP00000498973.1:p.Asp815Ala
ENST00000378823.7:c.2411A>C	ENSP00000368100.4:p.Asp804Ala
ENST00000423956.5:c.*597A>C	ENSP00000390971.1:n.*597A>C
ENST00000533482.5:c.*2037A>C	ENSP00000431225.1:n.*2037A>C
NM_005732.3:c.2411A>C	NP_005723.2:p.Asp804Ala
NM_005732.4:c.2411A>C MANE Select	NP_005723.2:p.Asp804Ala