Canonical Allele Identifier: CA446364936

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1730265
• ClinVar RCV Id: RCV002326441
• MyVariant Identifiers: chr5:g.131953924T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618232T>A , CM000667.2:g.132618232T>A	GRCh38
NC_000005.9:g.131953924T>A , CM000667.1:g.131953924T>A	GRCh37
NC_000005.8:g.131981823T>A	NCBI36
NG_021151.1:g.66309T>A
NG_021151.2:g.66256T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3327T>A MANE Select	ENSP00000368100.4:p.Ile1109=
ENST00000638452.2:c.3030T>A	ENSP00000492349.2:p.Ile1010=
ENST00000638504.1:n.2935T>A
ENST00000638568.2:c.3030T>A	ENSP00000491158.2:p.Ile1010=
ENST00000639899.1:n.3846T>A
ENST00000640655.2:c.3030T>A	ENSP00000491596.2:p.Ile1010=
ENST00000651249.1:c.163T>A
ENST00000378823.7:c.3327T>A	ENSP00000368100.4:p.Ile1109=
ENST00000533482.5:c.*2953T>A	ENSP00000431225.1:n.*2953T>A
NM_005732.3:c.3327T>A	NP_005723.2:p.Ile1109=
NM_005732.4:c.3327T>A MANE Select	NP_005723.2:p.Ile1109=