Canonical Allele Identifier: CA1081647729

Gene: RAD50

Linked Data

• dbSNP Id: rs1750001188
• gnomAD v3: 5-132556962-C-T
• gnomAD v4: 5-132556962-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556962C>T , CM000667.2:g.132556962C>T	GRCh38
NC_000005.9:g.131892654C>T , CM000667.1:g.131892654C>T	GRCh37
NC_000005.8:g.131920553C>T	NCBI36
NG_021151.1:g.5039C>T
NG_021151.2:g.4986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2322C>T	ENSP00000492349.2:n.-168-2322C>T
ENST00000638504.1:n.207-2322C>T
ENST00000638568.2:c.-169+489C>T	ENSP00000491158.2:n.-169+489C>T
ENST00000639899.1:n.290-2322C>T
ENST00000640655.2:c.-168-2322C>T	ENSP00000491596.2:n.-168-2322C>T
ENST00000651541.1:c.-216C>T	ENSP00000498795.1:n.-216C>T
ENST00000378823.7:c.-363C>T	ENSP00000368100.4:n.-363C>T
ENST00000416135.5:c.-169+489C>T	ENSP00000389515.1:n.-169+489C>T
ENST00000533482.5:c.-363C>T	ENSP00000431225.1:n.-363C>T
NM_005732.3:c.-363C>T	NP_005723.2:n.-363C>T