Canonical Allele Identifier: CA360956655
Gene: RAD50 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132604913T>A , CM000667.2:g.132604913T>A GRCh38
NC_000005.9:g.131940605T>A , CM000667.1:g.131940605T>A GRCh37
NC_000005.8:g.131968504T>A NCBI36
NG_021151.1:g.52990T>A
NG_021151.2:g.52937T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.2632T>A MANE Select ENSP00000368100.4:p.Ser878Thr
ENST00000638452.2:c.2335T>A ENSP00000492349.2:p.Ser779Thr
ENST00000638504.1:n.2240T>A
ENST00000638568.2:c.2335T>A ENSP00000491158.2:p.Ser779Thr
ENST00000639899.1:n.3151T>A
ENST00000640655.2:c.2335T>A ENSP00000491596.2:p.Ser779Thr
ENST00000651160.1:c.*776T>A ENSP00000498829.1:n.*776T>A
ENST00000651723.1:c.*2715T>A ENSP00000498237.1:n.*2715T>A
ENST00000652016.1:c.*849T>A ENSP00000498267.1:n.*849T>A
ENST00000652485.1:c.2665T>A ENSP00000498973.1:p.Ser889Thr
ENST00000378823.7:c.2632T>A ENSP00000368100.4:p.Ser878Thr
ENST00000423956.5:c.*818T>A ENSP00000390971.1:n.*818T>A
ENST00000533482.5:c.*2258T>A ENSP00000431225.1:n.*2258T>A
NM_005732.3:c.2632T>A NP_005723.2:p.Ser878Thr
NM_005732.4:c.2632T>A MANE Select NP_005723.2:p.Ser878Thr