Canonical Allele Identifier: CA2740685271
Gene: RAD50 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132579845G>T , CM000667.2:g.132579845G>T GRCh38
NC_000005.9:g.131915537G>T , CM000667.1:g.131915537G>T GRCh37
NC_000005.8:g.131943436G>T NCBI36
NG_021151.1:g.27922G>T
NG_021151.2:g.27869G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.552-17G>T MANE Select ENSP00000368100.4:n.552-17G>T
ENST00000638452.2:c.255-17G>T ENSP00000492349.2:n.255-17G>T
ENST00000638504.1:n.442+3917G>T
ENST00000638568.2:c.255-17G>T ENSP00000491158.2:n.255-17G>T
ENST00000639899.1:n.1054G>T
ENST00000640655.2:c.255-17G>T ENSP00000491596.2:n.255-17G>T
ENST00000651160.1:c.552-17G>T ENSP00000498829.1:n.552-17G>T
ENST00000651541.1:c.255-17G>T ENSP00000498795.1:n.255-17G>T
ENST00000651658.1:n.962G>T
ENST00000651723.1:c.*635-17G>T ENSP00000498237.1:n.*635-17G>T
ENST00000652016.1:c.552-17G>T ENSP00000498267.1:n.552-17G>T
ENST00000652485.1:c.552-17G>T ENSP00000498973.1:n.552-17G>T
ENST00000378823.7:c.552-17G>T ENSP00000368100.4:n.552-17G>T
ENST00000416135.5:c.255-17G>T ENSP00000389515.1:n.255-17G>T
ENST00000423956.5:c.552-17G>T ENSP00000390971.1:n.552-17G>T
ENST00000453394.5:c.552-17G>T ENSP00000400049.1:n.552-17G>T
ENST00000487596.1:n.101G>T
ENST00000533482.5:c.*178-17G>T ENSP00000431225.1:n.*178-17G>T
NM_005732.3:c.552-17G>T NP_005723.2:n.552-17G>T
NM_005732.4:c.552-17G>T MANE Select NP_005723.2:n.552-17G>T