Canonical Allele Identifier: CA446364161

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940670G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604978G>A , CM000667.2:g.132604978G>A	GRCh38
NC_000005.9:g.131940670G>A , CM000667.1:g.131940670G>A	GRCh37
NC_000005.8:g.131968569G>A	NCBI36
NG_021151.1:g.53055G>A
NG_021151.2:g.53002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2697G>A MANE Select	ENSP00000368100.4:p.Gln899=
ENST00000638452.2:c.2400G>A	ENSP00000492349.2:p.Gln800=
ENST00000638504.1:n.2305G>A
ENST00000638568.2:c.2400G>A	ENSP00000491158.2:p.Gln800=
ENST00000639899.1:n.3216G>A
ENST00000640655.2:c.2400G>A	ENSP00000491596.2:p.Gln800=
ENST00000651160.1:c.*841G>A	ENSP00000498829.1:n.*841G>A
ENST00000651723.1:c.*2780G>A	ENSP00000498237.1:n.*2780G>A
ENST00000652016.1:c.*914G>A	ENSP00000498267.1:n.*914G>A
ENST00000378823.7:c.2697G>A	ENSP00000368100.4:p.Gln899=
ENST00000423956.5:c.*883G>A	ENSP00000390971.1:n.*883G>A
ENST00000533482.5:c.*2323G>A	ENSP00000431225.1:n.*2323G>A
NM_005732.3:c.2697G>A	NP_005723.2:p.Gln899=
NM_005732.4:c.2697G>A MANE Select	NP_005723.2:p.Gln899=