Canonical Allele Identifier: CA446364153
Gene: RAD50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131940658C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604966C>A , CM000667.2:g.132604966C>A GRCh38
NC_000005.9:g.131940658C>A , CM000667.1:g.131940658C>A GRCh37
NC_000005.8:g.131968557C>A NCBI36
NG_021151.1:g.53043C>A
NG_021151.2:g.52990C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.2685C>A MANE Select ENSP00000368100.4:p.Ser895=
ENST00000638452.2:c.2388C>A ENSP00000492349.2:p.Ser796=
ENST00000638504.1:n.2293C>A
ENST00000638568.2:c.2388C>A ENSP00000491158.2:p.Ser796=
ENST00000639899.1:n.3204C>A
ENST00000640655.2:c.2388C>A ENSP00000491596.2:p.Ser796=
ENST00000651160.1:c.*829C>A ENSP00000498829.1:n.*829C>A
ENST00000651723.1:c.*2768C>A ENSP00000498237.1:n.*2768C>A
ENST00000652016.1:c.*902C>A ENSP00000498267.1:n.*902C>A
ENST00000378823.7:c.2685C>A ENSP00000368100.4:p.Ser895=
ENST00000423956.5:c.*871C>A ENSP00000390971.1:n.*871C>A
ENST00000533482.5:c.*2311C>A ENSP00000431225.1:n.*2311C>A
NM_005732.3:c.2685C>A NP_005723.2:p.Ser895=
NM_005732.4:c.2685C>A MANE Select NP_005723.2:p.Ser895=