Canonical Allele Identifier: CA446361512
Gene: RAD50 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131893115T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132557423T>A , CM000667.2:g.132557423T>A GRCh38
NC_000005.9:g.131893115T>A , CM000667.1:g.131893115T>A GRCh37
NC_000005.8:g.131921014T>A NCBI36
NG_021151.1:g.5500T>A
NG_021151.2:g.5447T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.99T>A MANE Select ENSP00000368100.4:p.Ile33=
ENST00000638452.2:c.-168-1861T>A ENSP00000492349.2:n.-168-1861T>A
ENST00000638504.1:n.207-1861T>A
ENST00000638568.2:c.-169+950T>A ENSP00000491158.2:n.-169+950T>A
ENST00000639899.1:n.290-1861T>A
ENST00000640655.2:c.-168-1861T>A ENSP00000491596.2:n.-168-1861T>A
ENST00000651160.1:c.99T>A ENSP00000498829.1:p.Ile33=
ENST00000651541.1:c.-169+414T>A ENSP00000498795.1:n.-169+414T>A
ENST00000651658.1:n.167T>A
ENST00000651723.1:c.99T>A ENSP00000498237.1:p.Ile33=
ENST00000652016.1:c.99T>A ENSP00000498267.1:p.Ile33=
ENST00000652485.1:c.99T>A ENSP00000498973.1:p.Ile33=
ENST00000378823.7:c.99T>A ENSP00000368100.4:p.Ile33=
ENST00000416135.5:c.-169+950T>A ENSP00000389515.1:n.-169+950T>A
ENST00000423956.5:c.99T>A ENSP00000390971.1:p.Ile33=
ENST00000453394.5:c.99T>A ENSP00000400049.1:p.Ile33=
ENST00000533482.5:c.99T>A ENSP00000431225.1:p.Ile33=
NM_005732.3:c.99T>A NP_005723.2:p.Ile33=
NM_005732.4:c.99T>A MANE Select NP_005723.2:p.Ile33=