Canonical Allele Identifier: CA1081647748

Gene: RAD50

Linked Data

• dbSNP Id: rs1750002149
• gnomAD v3: 5-132556975-C-G
• gnomAD v4: 5-132556975-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556975C>G , CM000667.2:g.132556975C>G	GRCh38
NC_000005.9:g.131892667C>G , CM000667.1:g.131892667C>G	GRCh37
NC_000005.8:g.131920566C>G	NCBI36
NG_021151.1:g.5052C>G
NG_021151.2:g.4999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2309C>G	ENSP00000492349.2:n.-168-2309C>G
ENST00000638504.1:n.207-2309C>G
ENST00000638568.2:c.-169+502C>G	ENSP00000491158.2:n.-169+502C>G
ENST00000639899.1:n.290-2309C>G
ENST00000640655.2:c.-168-2309C>G	ENSP00000491596.2:n.-168-2309C>G
ENST00000651541.1:c.-203C>G	ENSP00000498795.1:n.-203C>G
ENST00000378823.7:c.-350C>G	ENSP00000368100.4:n.-350C>G
ENST00000416135.5:c.-169+502C>G	ENSP00000389515.1:n.-169+502C>G
ENST00000533482.5:c.-350C>G	ENSP00000431225.1:n.-350C>G
NM_005732.3:c.-350C>G	NP_005723.2:n.-350C>G