Canonical Allele Identifier: CA803997366

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs1284069631
• gnomAD v3: 5-132637385-G-C
• gnomAD v4: 5-132637385-G-C
• MyVariant Identifiers: chr5:g.131973077G>C (hg19) ; chr5:g.132637385G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132637385G>C , CM000667.2:g.132637385G>C	GRCh38
NC_000005.9:g.131973077G>C , CM000667.1:g.131973077G>C	GRCh37
NC_000005.8:g.132000976G>C	NCBI36
NG_021151.1:g.85462G>C
NG_021151.2:g.85409G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3475+185G>C (RAD50) MANE Select	ENSP00000368100.4:n.3475+185G>C
ENST00000638452.2:c.3178+185G>C	ENSP00000492349.2:n.3178+185G>C
ENST00000638504.1:n.3083+185G>C
ENST00000638568.2:c.3178+185G>C	ENSP00000491158.2:n.3178+185G>C
ENST00000639899.1:n.3994+185G>C
ENST00000640655.2:c.3178+185G>C	ENSP00000491596.2:n.3178+185G>C
ENST00000651249.1:c.311+185G>C (RAD50)
ENST00000378823.7:c.3475+185G>C (RAD50)	ENSP00000368100.4:n.3475+185G>C
ENST00000455677.1:c.110+185G>C (RAD50)
ENST00000533482.5:c.*3101+185G>C (RAD50)	ENSP00000431225.1:n.*3101+185G>C
NM_005732.3:c.3475+185G>C (RAD50)	NP_005723.2:n.3475+185G>C
NR_132124.1:n.153+773C>G (TH2LCRR)
NM_005732.4:c.3475+185G>C (RAD50) MANE Select	NP_005723.2:n.3475+185G>C