Canonical Allele Identifier: CA446495087

Gene: RAD50

Linked Data

• dbSNP Id: rs1316328048
• gnomAD v2: 5-131944847-C-T
• MyVariant Identifiers: chr5:g.131944847C>T (hg19) ; chr5:g.132609155C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609155C>T , CM000667.2:g.132609155C>T	GRCh38
NC_000005.9:g.131944847C>T , CM000667.1:g.131944847C>T	GRCh37
NC_000005.8:g.131972746C>T	NCBI36
NG_021151.1:g.57232C>T
NG_021151.2:g.57179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2868C>T MANE Select	ENSP00000368100.4:p.Gly956=
ENST00000638452.2:c.2571C>T	ENSP00000492349.2:p.Gly857=
ENST00000638504.1:n.2476C>T
ENST00000638568.2:c.2571C>T	ENSP00000491158.2:p.Gly857=
ENST00000639899.1:n.3387C>T
ENST00000640655.2:c.2571C>T	ENSP00000491596.2:p.Gly857=
ENST00000651160.1:c.*1012C>T	ENSP00000498829.1:n.*1012C>T
ENST00000651723.1:c.*2951C>T	ENSP00000498237.1:n.*2951C>T
ENST00000378823.7:c.2868C>T	ENSP00000368100.4:p.Gly956=
ENST00000423956.5:c.*1054C>T	ENSP00000390971.1:n.*1054C>T
ENST00000533482.5:c.*2494C>T	ENSP00000431225.1:n.*2494C>T
NM_005732.3:c.2868C>T	NP_005723.2:p.Gly956=
NM_005732.4:c.2868C>T MANE Select	NP_005723.2:p.Gly956=