Canonical Allele Identifier: CA360960682

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131945032A>C (hg19) ; chr5:g.132609340A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609340A>C , CM000667.2:g.132609340A>C	GRCh38
NC_000005.9:g.131945032A>C , CM000667.1:g.131945032A>C	GRCh37
NC_000005.8:g.131972931A>C	NCBI36
NG_021151.1:g.57417A>C
NG_021151.2:g.57364A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2980A>C MANE Select	ENSP00000368100.4:p.Lys994Gln
ENST00000638452.2:c.2683A>C	ENSP00000492349.2:p.Lys895Gln
ENST00000638504.1:n.2588A>C
ENST00000638568.2:c.2683A>C	ENSP00000491158.2:p.Lys895Gln
ENST00000639899.1:n.3499A>C
ENST00000640655.2:c.2683A>C	ENSP00000491596.2:p.Lys895Gln
ENST00000651160.1:c.*1124A>C	ENSP00000498829.1:n.*1124A>C
ENST00000651723.1:c.*3063A>C	ENSP00000498237.1:n.*3063A>C
ENST00000378823.7:c.2980A>C	ENSP00000368100.4:p.Lys994Gln
ENST00000533482.5:c.*2606A>C	ENSP00000431225.1:n.*2606A>C
NM_005732.3:c.2980A>C	NP_005723.2:p.Lys994Gln
NM_005732.4:c.2980A>C MANE Select	NP_005723.2:p.Lys994Gln