Canonical Allele Identifier: CA3404993
Gene: RAD50 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.132579521G>A
GRCh37 chr5:g.131915213G>A
gnomAD v2:
5:131915213 G / A
gnomAD v3:
5:132579521 G / A
gnomAD v4:
chr5-132579521-G-A
Joint Max Group AF 0.22361395 (SAS)
Genomes Max Group AF 0.21380467 (SAS)
Exomes Max Group AF 0.22361487 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132579521G>A , CM000667.2:g.132579521G>A GRCh38
NC_000005.9:g.131915213G>A , CM000667.1:g.131915213G>A GRCh37
NC_000005.8:g.131943112G>A NCBI36
NG_021151.1:g.27598G>A
NG_021151.2:g.27545G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.551+19G>A MANE Select ENSP00000368100.4:n.551+19G>A
ENST00000638452.2:c.254+19G>A ENSP00000492349.2:n.254+19G>A
ENST00000638504.1:n.442+3593G>A
ENST00000638568.2:c.254+19G>A ENSP00000491158.2:n.254+19G>A
ENST00000639899.1:n.730G>A
ENST00000640655.2:c.254+19G>A ENSP00000491596.2:n.254+19G>A
ENST00000651160.1:c.551+19G>A ENSP00000498829.1:n.551+19G>A
ENST00000651541.1:c.254+19G>A ENSP00000498795.1:n.254+19G>A
ENST00000651658.1:n.638G>A
ENST00000651723.1:c.*634+19G>A ENSP00000498237.1:n.*634+19G>A
ENST00000652016.1:c.551+19G>A ENSP00000498267.1:n.551+19G>A
ENST00000652485.1:c.551+19G>A ENSP00000498973.1:n.551+19G>A
ENST00000378823.7:c.551+19G>A ENSP00000368100.4:n.551+19G>A
ENST00000416135.5:c.254+19G>A ENSP00000389515.1:n.254+19G>A
ENST00000423956.5:c.551+19G>A ENSP00000390971.1:n.551+19G>A
ENST00000453394.5:c.551+19G>A ENSP00000400049.1:n.551+19G>A
ENST00000533482.5:c.*177+19G>A ENSP00000431225.1:n.*177+19G>A
NM_005732.3:c.551+19G>A NP_005723.2:n.551+19G>A
NM_005732.4:c.551+19G>A MANE Select NP_005723.2:n.551+19G>A
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