Canonical Allele Identifier: CA2675215766

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557163-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557163T>G , CM000667.2:g.132557163T>G	GRCh38
NC_000005.9:g.131892855T>G , CM000667.1:g.131892855T>G	GRCh37
NC_000005.8:g.131920754T>G	NCBI36
NG_021151.1:g.5240T>G
NG_021151.2:g.5187T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-162T>G MANE Select	ENSP00000368100.4:n.-162T>G
ENST00000638452.2:c.-168-2121T>G	ENSP00000492349.2:n.-168-2121T>G
ENST00000638504.1:n.207-2121T>G
ENST00000638568.2:c.-169+690T>G	ENSP00000491158.2:n.-169+690T>G
ENST00000639899.1:n.290-2121T>G
ENST00000640655.2:c.-168-2121T>G	ENSP00000491596.2:n.-168-2121T>G
ENST00000651160.1:c.-162T>G	ENSP00000498829.1:n.-162T>G
ENST00000651541.1:c.-169+154T>G	ENSP00000498795.1:n.-169+154T>G
ENST00000651723.1:c.-162T>G	ENSP00000498237.1:n.-162T>G
ENST00000652016.1:c.-162T>G	ENSP00000498267.1:n.-162T>G
ENST00000652485.1:c.-162T>G	ENSP00000498973.1:n.-162T>G
ENST00000378823.7:c.-162T>G	ENSP00000368100.4:n.-162T>G
ENST00000416135.5:c.-169+690T>G	ENSP00000389515.1:n.-169+690T>G
ENST00000533482.5:c.-162T>G	ENSP00000431225.1:n.-162T>G
NM_005732.3:c.-162T>G	NP_005723.2:n.-162T>G
NM_005732.4:c.-162T>G MANE Select	NP_005723.2:n.-162T>G