Canonical Allele Identifier: CA1583237669

Gene: RAD50

Linked Data

• dbSNP Id: rs1750633232

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132588370C>T , CM000667.2:g.132588370C>T	GRCh38
NC_000005.9:g.131924062C>T , CM000667.1:g.131924062C>T	GRCh37
NC_000005.8:g.131951961C>T	NCBI36
NG_021151.1:g.36447C>T
NG_021151.2:g.36394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1051+281C>T MANE Select	ENSP00000368100.4:n.1051+281C>T
ENST00000638452.2:c.754+281C>T	ENSP00000492349.2:n.754+281C>T
ENST00000638504.1:n.737+281C>T
ENST00000638568.2:c.754+281C>T	ENSP00000491158.2:n.754+281C>T
ENST00000639899.1:n.1570+281C>T
ENST00000640655.2:c.754+281C>T	ENSP00000491596.2:n.754+281C>T
ENST00000651160.1:c.1051+281C>T	ENSP00000498829.1:n.1051+281C>T
ENST00000651541.1:c.754+281C>T	ENSP00000498795.1:n.754+281C>T
ENST00000651658.1:n.1478+281C>T
ENST00000651723.1:c.*1134+281C>T	ENSP00000498237.1:n.*1134+281C>T
ENST00000652016.1:c.1051+281C>T	ENSP00000498267.1:n.1051+281C>T
ENST00000652485.1:c.1051+281C>T	ENSP00000498973.1:n.1051+281C>T
ENST00000378823.7:c.1051+281C>T	ENSP00000368100.4:n.1051+281C>T
ENST00000423956.5:c.1051+281C>T	ENSP00000390971.1:n.1051+281C>T
ENST00000453394.5:c.1051+281C>T	ENSP00000400049.1:n.1051+281C>T
ENST00000487596.1:n.617+281C>T
ENST00000533482.5:c.*677+281C>T	ENSP00000431225.1:n.*677+281C>T
NM_005732.3:c.1051+281C>T	NP_005723.2:n.1051+281C>T
NM_005732.4:c.1051+281C>T MANE Select	NP_005723.2:n.1051+281C>T