Canonical Allele Identifier: CA2675215518

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556977-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556977A>G , CM000667.2:g.132556977A>G	GRCh38
NC_000005.9:g.131892669A>G , CM000667.1:g.131892669A>G	GRCh37
NC_000005.8:g.131920568A>G	NCBI36
NG_021151.1:g.5054A>G
NG_021151.2:g.5001A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-348A>G MANE Select	ENSP00000368100.4:n.-348A>G
ENST00000638452.2:c.-168-2307A>G	ENSP00000492349.2:n.-168-2307A>G
ENST00000638504.1:n.207-2307A>G
ENST00000638568.2:c.-169+504A>G	ENSP00000491158.2:n.-169+504A>G
ENST00000639899.1:n.290-2307A>G
ENST00000640655.2:c.-168-2307A>G	ENSP00000491596.2:n.-168-2307A>G
ENST00000651541.1:c.-201A>G	ENSP00000498795.1:n.-201A>G
ENST00000378823.7:c.-348A>G	ENSP00000368100.4:n.-348A>G
ENST00000416135.5:c.-169+504A>G	ENSP00000389515.1:n.-169+504A>G
ENST00000533482.5:c.-348A>G	ENSP00000431225.1:n.-348A>G
NM_005732.3:c.-348A>G	NP_005723.2:n.-348A>G
NM_005732.4:c.-348A>G MANE Select	NP_005723.2:n.-348A>G