Canonical Allele Identifier: CA360956387

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940545G>C (hg19) ; chr5:g.132604853G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604853G>C , CM000667.2:g.132604853G>C	GRCh38
NC_000005.9:g.131940545G>C , CM000667.1:g.131940545G>C	GRCh37
NC_000005.8:g.131968444G>C	NCBI36
NG_021151.1:g.52930G>C
NG_021151.2:g.52877G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2572G>C MANE Select	ENSP00000368100.4:p.Glu858Gln
ENST00000638452.2:c.2275G>C	ENSP00000492349.2:p.Glu759Gln
ENST00000638504.1:n.2180G>C
ENST00000638568.2:c.2275G>C	ENSP00000491158.2:p.Glu759Gln
ENST00000639899.1:n.3091G>C
ENST00000640655.2:c.2275G>C	ENSP00000491596.2:p.Glu759Gln
ENST00000651160.1:c.*716G>C	ENSP00000498829.1:n.*716G>C
ENST00000651723.1:c.*2655G>C	ENSP00000498237.1:n.*2655G>C
ENST00000652016.1:c.*789G>C	ENSP00000498267.1:n.*789G>C
ENST00000652485.1:c.2605G>C	ENSP00000498973.1:p.Glu869Gln
ENST00000378823.7:c.2572G>C	ENSP00000368100.4:p.Glu858Gln
ENST00000423956.5:c.*758G>C	ENSP00000390971.1:n.*758G>C
ENST00000533482.5:c.*2198G>C	ENSP00000431225.1:n.*2198G>C
NM_005732.3:c.2572G>C	NP_005723.2:p.Glu858Gln
NM_005732.4:c.2572G>C MANE Select	NP_005723.2:p.Glu858Gln