Canonical Allele Identifier: CA360933346

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131915019A>C (hg19) ; chr5:g.132579327A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579327A>C , CM000667.2:g.132579327A>C	GRCh38
NC_000005.9:g.131915019A>C , CM000667.1:g.131915019A>C	GRCh37
NC_000005.8:g.131942918A>C	NCBI36
NG_021151.1:g.27404A>C
NG_021151.2:g.27351A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.376A>C MANE Select	ENSP00000368100.4:p.Lys126Gln
ENST00000638452.2:c.79A>C	ENSP00000492349.2:p.Lys27Gln
ENST00000638504.1:n.442+3399A>C
ENST00000638568.2:c.79A>C	ENSP00000491158.2:p.Lys27Gln
ENST00000639899.1:n.536A>C
ENST00000640655.2:c.79A>C	ENSP00000491596.2:p.Lys27Gln
ENST00000651160.1:c.376A>C	ENSP00000498829.1:p.Lys126Gln
ENST00000651541.1:c.79A>C	ENSP00000498795.1:p.Lys27Gln
ENST00000651658.1:n.444A>C
ENST00000651723.1:c.*459A>C	ENSP00000498237.1:n.*459A>C
ENST00000652016.1:c.376A>C	ENSP00000498267.1:p.Lys126Gln
ENST00000652485.1:c.376A>C	ENSP00000498973.1:p.Lys126Gln
ENST00000378823.7:c.376A>C	ENSP00000368100.4:p.Lys126Gln
ENST00000416135.5:c.79A>C	ENSP00000389515.1:p.Lys27Gln
ENST00000423956.5:c.376A>C	ENSP00000390971.1:p.Lys126Gln
ENST00000453394.5:c.376A>C	ENSP00000400049.1:p.Lys126Gln
ENST00000533482.5:c.*2A>C	ENSP00000431225.1:n.*2A>C
NM_005732.3:c.376A>C	NP_005723.2:p.Lys126Gln
NM_005732.4:c.376A>C MANE Select	NP_005723.2:p.Lys126Gln