Canonical Allele Identifier: CA360959958

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944884A>C (hg19) ; chr5:g.132609192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609192A>C , CM000667.2:g.132609192A>C	GRCh38
NC_000005.9:g.131944884A>C , CM000667.1:g.131944884A>C	GRCh37
NC_000005.8:g.131972783A>C	NCBI36
NG_021151.1:g.57269A>C
NG_021151.2:g.57216A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2905A>C MANE Select	ENSP00000368100.4:p.Lys969Gln
ENST00000638452.2:c.2608A>C	ENSP00000492349.2:p.Lys870Gln
ENST00000638504.1:n.2513A>C
ENST00000638568.2:c.2608A>C	ENSP00000491158.2:p.Lys870Gln
ENST00000639899.1:n.3424A>C
ENST00000640655.2:c.2608A>C	ENSP00000491596.2:p.Lys870Gln
ENST00000651160.1:c.*1049A>C	ENSP00000498829.1:n.*1049A>C
ENST00000651723.1:c.*2988A>C	ENSP00000498237.1:n.*2988A>C
ENST00000378823.7:c.2905A>C	ENSP00000368100.4:p.Lys969Gln
ENST00000423956.5:c.*1091A>C	ENSP00000390971.1:n.*1091A>C
ENST00000533482.5:c.*2531A>C	ENSP00000431225.1:n.*2531A>C
NM_005732.3:c.2905A>C	NP_005723.2:p.Lys969Gln
NM_005732.4:c.2905A>C MANE Select	NP_005723.2:p.Lys969Gln