Canonical Allele Identifier: CA2710056958
Gene: RAD50 HGNC NCBI

Linked Data

dbSNP Id: rs974688605

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132591833G>T , CM000667.2:g.132591833G>T GRCh38
NC_000005.9:g.131927525G>T , CM000667.1:g.131927525G>T GRCh37
NC_000005.8:g.131955424G>T NCBI36
NG_021151.1:g.39910G>T
NG_021151.2:g.39857G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.1636-44G>T MANE Select ENSP00000368100.4:n.1636-44G>T
ENST00000638452.2:c.1339-44G>T ENSP00000492349.2:n.1339-44G>T
ENST00000638504.1:n.1322-44G>T
ENST00000638568.2:c.1339-44G>T ENSP00000491158.2:n.1339-44G>T
ENST00000639899.1:n.2155-44G>T
ENST00000640655.2:c.1339-44G>T ENSP00000491596.2:n.1339-44G>T
ENST00000651160.1:c.1636-44G>T ENSP00000498829.1:n.1636-44G>T
ENST00000651541.1:c.1339-44G>T ENSP00000498795.1:n.1339-44G>T
ENST00000651658.1:n.2063-44G>T
ENST00000651723.1:c.*1719-44G>T ENSP00000498237.1:n.*1719-44G>T
ENST00000652016.1:c.1636-44G>T ENSP00000498267.1:n.1636-44G>T
ENST00000652485.1:c.1669-44G>T ENSP00000498973.1:n.1669-44G>T
ENST00000378823.7:c.1636-44G>T ENSP00000368100.4:n.1636-44G>T
ENST00000423956.5:c.1635+427G>T ENSP00000390971.1:n.1635+427G>T
ENST00000434288.1:c.131-44G>T
ENST00000453394.5:c.1453-44G>T ENSP00000400049.1:n.1453-44G>T
ENST00000533482.5:c.*1262-44G>T ENSP00000431225.1:n.*1262-44G>T
NM_005732.3:c.1636-44G>T NP_005723.2:n.1636-44G>T
NM_005732.4:c.1636-44G>T MANE Select NP_005723.2:n.1636-44G>T