Canonical Allele Identifier: CA360956641

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604910-A-T
• MyVariant Identifiers: chr5:g.131940602A>T (hg19) ; chr5:g.132604910A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604910A>T , CM000667.2:g.132604910A>T	GRCh38
NC_000005.9:g.131940602A>T , CM000667.1:g.131940602A>T	GRCh37
NC_000005.8:g.131968501A>T	NCBI36
NG_021151.1:g.52987A>T
NG_021151.2:g.52934A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2629A>T MANE Select	ENSP00000368100.4:p.Ile877Leu
ENST00000638452.2:c.2332A>T	ENSP00000492349.2:p.Ile778Leu
ENST00000638504.1:n.2237A>T
ENST00000638568.2:c.2332A>T	ENSP00000491158.2:p.Ile778Leu
ENST00000639899.1:n.3148A>T
ENST00000640655.2:c.2332A>T	ENSP00000491596.2:p.Ile778Leu
ENST00000651160.1:c.*773A>T	ENSP00000498829.1:n.*773A>T
ENST00000651723.1:c.*2712A>T	ENSP00000498237.1:n.*2712A>T
ENST00000652016.1:c.*846A>T	ENSP00000498267.1:n.*846A>T
ENST00000652485.1:c.2662A>T	ENSP00000498973.1:p.Ile888Leu
ENST00000378823.7:c.2629A>T	ENSP00000368100.4:p.Ile877Leu
ENST00000423956.5:c.*815A>T	ENSP00000390971.1:n.*815A>T
ENST00000533482.5:c.*2255A>T	ENSP00000431225.1:n.*2255A>T
NM_005732.3:c.2629A>T	NP_005723.2:p.Ile877Leu
NM_005732.4:c.2629A>T MANE Select	NP_005723.2:p.Ile877Leu