Canonical Allele Identifier: CA360950734

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131893029G>C (hg19) ; chr5:g.132557337G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557337G>C , CM000667.2:g.132557337G>C	GRCh38
NC_000005.9:g.131893029G>C , CM000667.1:g.131893029G>C	GRCh37
NC_000005.8:g.131920928G>C	NCBI36
NG_021151.1:g.5414G>C
NG_021151.2:g.5361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.13G>C MANE Select	ENSP00000368100.4:p.Glu5Gln
ENST00000638452.2:c.-168-1947G>C	ENSP00000492349.2:n.-168-1947G>C
ENST00000638504.1:n.207-1947G>C
ENST00000638568.2:c.-169+864G>C	ENSP00000491158.2:n.-169+864G>C
ENST00000639899.1:n.290-1947G>C
ENST00000640655.2:c.-168-1947G>C	ENSP00000491596.2:n.-168-1947G>C
ENST00000651160.1:c.13G>C	ENSP00000498829.1:p.Glu5Gln
ENST00000651541.1:c.-169+328G>C	ENSP00000498795.1:n.-169+328G>C
ENST00000651658.1:n.81G>C
ENST00000651723.1:c.13G>C	ENSP00000498237.1:p.Glu5Gln
ENST00000652016.1:c.13G>C	ENSP00000498267.1:p.Glu5Gln
ENST00000652485.1:c.13G>C	ENSP00000498973.1:p.Glu5Gln
ENST00000378823.7:c.13G>C	ENSP00000368100.4:p.Glu5Gln
ENST00000416135.5:c.-169+864G>C	ENSP00000389515.1:n.-169+864G>C
ENST00000423956.5:c.13G>C	ENSP00000390971.1:p.Glu5Gln
ENST00000453394.5:c.13G>C	ENSP00000400049.1:p.Glu5Gln
ENST00000533482.5:c.13G>C	ENSP00000431225.1:p.Glu5Gln
NM_005732.3:c.13G>C	NP_005723.2:p.Glu5Gln
NM_005732.4:c.13G>C MANE Select	NP_005723.2:p.Glu5Gln