Canonical Allele Identifier: CA2675218068
Gene: RAD50 HGNC NCBI

Linked Data

gnomAD v4: 5-132609403-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609403C>A , CM000667.2:g.132609403C>A GRCh38
NC_000005.9:g.131945095C>A , CM000667.1:g.131945095C>A GRCh37
NC_000005.8:g.131972994C>A NCBI36
NG_021151.1:g.57480C>A
NG_021151.2:g.57427C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3036+7C>A MANE Select ENSP00000368100.4:n.3036+7C>A
ENST00000638452.2:c.2739+7C>A ENSP00000492349.2:n.2739+7C>A
ENST00000638504.1:n.2644+7C>A
ENST00000638568.2:c.2739+7C>A ENSP00000491158.2:n.2739+7C>A
ENST00000639899.1:n.3555+7C>A
ENST00000640655.2:c.2739+7C>A ENSP00000491596.2:n.2739+7C>A
ENST00000651723.1:c.*3119+7C>A ENSP00000498237.1:n.*3119+7C>A
ENST00000378823.7:c.3036+7C>A ENSP00000368100.4:n.3036+7C>A
ENST00000533482.5:c.*2662+7C>A ENSP00000431225.1:n.*2662+7C>A
NM_005732.3:c.3036+7C>A NP_005723.2:n.3036+7C>A
NM_005732.4:c.3036+7C>A MANE Select NP_005723.2:n.3036+7C>A
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