Canonical Allele Identifier: CA360956797

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940638G>C (hg19) ; chr5:g.132604946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604946G>C , CM000667.2:g.132604946G>C	GRCh38
NC_000005.9:g.131940638G>C , CM000667.1:g.131940638G>C	GRCh37
NC_000005.8:g.131968537G>C	NCBI36
NG_021151.1:g.53023G>C
NG_021151.2:g.52970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2665G>C MANE Select	ENSP00000368100.4:p.Glu889Gln
ENST00000638452.2:c.2368G>C	ENSP00000492349.2:p.Glu790Gln
ENST00000638504.1:n.2273G>C
ENST00000638568.2:c.2368G>C	ENSP00000491158.2:p.Glu790Gln
ENST00000639899.1:n.3184G>C
ENST00000640655.2:c.2368G>C	ENSP00000491596.2:p.Glu790Gln
ENST00000651160.1:c.*809G>C	ENSP00000498829.1:n.*809G>C
ENST00000651723.1:c.*2748G>C	ENSP00000498237.1:n.*2748G>C
ENST00000652016.1:c.*882G>C	ENSP00000498267.1:n.*882G>C
ENST00000378823.7:c.2665G>C	ENSP00000368100.4:p.Glu889Gln
ENST00000423956.5:c.*851G>C	ENSP00000390971.1:n.*851G>C
ENST00000533482.5:c.*2291G>C	ENSP00000431225.1:n.*2291G>C
NM_005732.3:c.2665G>C	NP_005723.2:p.Glu889Gln
NM_005732.4:c.2665G>C MANE Select	NP_005723.2:p.Glu889Gln