Canonical Allele Identifier: CA2675218828

Gene: RAD50

Linked Data

• gnomAD v4: 5-132609041-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609041C>A , CM000667.2:g.132609041C>A	GRCh38
NC_000005.9:g.131944733C>A , CM000667.1:g.131944733C>A	GRCh37
NC_000005.8:g.131972632C>A	NCBI36
NG_021151.1:g.57118C>A
NG_021151.2:g.57065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2830-76C>A MANE Select	ENSP00000368100.4:n.2830-76C>A
ENST00000638452.2:c.2533-76C>A	ENSP00000492349.2:n.2533-76C>A
ENST00000638504.1:n.2438-76C>A
ENST00000638568.2:c.2533-76C>A	ENSP00000491158.2:n.2533-76C>A
ENST00000639899.1:n.3349-76C>A
ENST00000640655.2:c.2533-76C>A	ENSP00000491596.2:n.2533-76C>A
ENST00000651160.1:c.*974-76C>A	ENSP00000498829.1:n.*974-76C>A
ENST00000651723.1:c.*2913-76C>A	ENSP00000498237.1:n.*2913-76C>A
ENST00000378823.7:c.2830-76C>A	ENSP00000368100.4:n.2830-76C>A
ENST00000423956.5:c.*1016-76C>A	ENSP00000390971.1:n.*1016-76C>A
ENST00000533482.5:c.*2456-76C>A	ENSP00000431225.1:n.*2456-76C>A
NM_005732.3:c.2830-76C>A	NP_005723.2:n.2830-76C>A
NM_005732.4:c.2830-76C>A MANE Select	NP_005723.2:n.2830-76C>A