Canonical Allele Identifier: CA127237728

Gene: RAD50 TH2LCRR

Linked Data

• dbSNP Id: rs924265248
• gnomAD v3: 5-132641386-C-T
• gnomAD v4: 5-132641386-C-T
• MyVariant Identifiers: chr5:g.131977078C>T (hg19) ; chr5:g.132641386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132641386C>T , CM000667.2:g.132641386C>T	GRCh38
NC_000005.9:g.131977078C>T , CM000667.1:g.131977078C>T	GRCh37
NC_000005.8:g.132004977C>T	NCBI36
NG_021151.1:g.89463C>T
NG_021151.2:g.89410C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3752+581C>T (RAD50) MANE Select	ENSP00000368100.4:n.3752+581C>T
ENST00000638452.2:c.3455+581C>T	ENSP00000492349.2:n.3455+581C>T
ENST00000638504.1:n.3360+581C>T
ENST00000638568.2:c.3455+581C>T	ENSP00000491158.2:n.3455+581C>T
ENST00000639899.1:n.4271+581C>T
ENST00000640655.2:c.3455+581C>T	ENSP00000491596.2:n.3455+581C>T
ENST00000651249.1:c.588+581C>T (RAD50)
ENST00000378823.7:c.3752+581C>T (RAD50)	ENSP00000368100.4:n.3752+581C>T
ENST00000455677.1:c.387+581C>T (RAD50)
ENST00000533482.5:c.*3378+581C>T (RAD50)	ENSP00000431225.1:n.*3378+581C>T
NM_005732.3:c.3752+581C>T (RAD50)	NP_005723.2:n.3752+581C>T
NR_132124.1:n.45+360G>A (TH2LCRR)
NR_132125.1:n.189+812G>A (TH2LCRR)
NR_132126.1:n.175-3121G>A (TH2LCRR)
XR_427771.1:n.426+360G>A (TH2LCRR)
NM_005732.4:c.3752+581C>T (RAD50) MANE Select	NP_005723.2:n.3752+581C>T