Canonical Allele Identifier: CA2675218327

Gene: RAD50

Linked Data

• gnomAD v4: 5-132609502-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609502C>G , CM000667.2:g.132609502C>G	GRCh38
NC_000005.9:g.131945194C>G , CM000667.1:g.131945194C>G	GRCh37
NC_000005.8:g.131973093C>G	NCBI36
NG_021151.1:g.57579C>G
NG_021151.2:g.57526C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3036+106C>G MANE Select	ENSP00000368100.4:n.3036+106C>G
ENST00000638452.2:c.2739+106C>G	ENSP00000492349.2:n.2739+106C>G
ENST00000638504.1:n.2644+106C>G
ENST00000638568.2:c.2739+106C>G	ENSP00000491158.2:n.2739+106C>G
ENST00000639899.1:n.3555+106C>G
ENST00000640655.2:c.2739+106C>G	ENSP00000491596.2:n.2739+106C>G
ENST00000651723.1:c.*3119+106C>G	ENSP00000498237.1:n.*3119+106C>G
ENST00000378823.7:c.3036+106C>G	ENSP00000368100.4:n.3036+106C>G
ENST00000533482.5:c.*2662+106C>G	ENSP00000431225.1:n.*2662+106C>G
NM_005732.3:c.3036+106C>G	NP_005723.2:n.3036+106C>G
NM_005732.4:c.3036+106C>G MANE Select	NP_005723.2:n.3036+106C>G