Canonical Allele Identifier: CA562778005

Gene: RAD50

Linked Data

• dbSNP Id: rs1270138074
• gnomAD v2: 5-131954009-T-C
• gnomAD v4: 5-132618317-T-C
• MyVariant Identifiers: chr5:g.131954009T>C (hg19) ; chr5:g.132618317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618317T>C , CM000667.2:g.132618317T>C	GRCh38
NC_000005.9:g.131954009T>C , CM000667.1:g.131954009T>C	GRCh37
NC_000005.8:g.131981908T>C	NCBI36
NG_021151.1:g.66394T>C
NG_021151.2:g.66341T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+23T>C MANE Select	ENSP00000368100.4:n.3389+23T>C
ENST00000638452.2:c.3092+23T>C	ENSP00000492349.2:n.3092+23T>C
ENST00000638504.1:n.2997+23T>C
ENST00000638568.2:c.3092+23T>C	ENSP00000491158.2:n.3092+23T>C
ENST00000639899.1:n.3908+23T>C
ENST00000640655.2:c.3092+23T>C	ENSP00000491596.2:n.3092+23T>C
ENST00000651249.1:c.225+23T>C
ENST00000378823.7:c.3389+23T>C	ENSP00000368100.4:n.3389+23T>C
ENST00000455677.1:c.24+23T>C
ENST00000533482.5:c.*3015+23T>C	ENSP00000431225.1:n.*3015+23T>C
NM_005732.3:c.3389+23T>C	NP_005723.2:n.3389+23T>C
NM_005732.4:c.3389+23T>C MANE Select	NP_005723.2:n.3389+23T>C