Canonical Allele Identifier: CA2675215523

Gene: RAD50

Linked Data

• gnomAD v4: 5-132556980-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556980T>C , CM000667.2:g.132556980T>C	GRCh38
NC_000005.9:g.131892672T>C , CM000667.1:g.131892672T>C	GRCh37
NC_000005.8:g.131920571T>C	NCBI36
NG_021151.1:g.5057T>C
NG_021151.2:g.5004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-345T>C MANE Select	ENSP00000368100.4:n.-345T>C
ENST00000638452.2:c.-168-2304T>C	ENSP00000492349.2:n.-168-2304T>C
ENST00000638504.1:n.207-2304T>C
ENST00000638568.2:c.-169+507T>C	ENSP00000491158.2:n.-169+507T>C
ENST00000639899.1:n.290-2304T>C
ENST00000640655.2:c.-168-2304T>C	ENSP00000491596.2:n.-168-2304T>C
ENST00000651541.1:c.-198T>C	ENSP00000498795.1:n.-198T>C
ENST00000652016.1:c.-345T>C	ENSP00000498267.1:n.-345T>C
ENST00000378823.7:c.-345T>C	ENSP00000368100.4:n.-345T>C
ENST00000416135.5:c.-169+507T>C	ENSP00000389515.1:n.-169+507T>C
ENST00000533482.5:c.-345T>C	ENSP00000431225.1:n.-345T>C
NM_005732.3:c.-345T>C	NP_005723.2:n.-345T>C
NM_005732.4:c.-345T>C MANE Select	NP_005723.2:n.-345T>C