Canonical Allele Identifier: CA360946431

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131927618A>T (hg19) ; chr5:g.132591926A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591926A>T , CM000667.2:g.132591926A>T	GRCh38
NC_000005.9:g.131927618A>T , CM000667.1:g.131927618A>T	GRCh37
NC_000005.8:g.131955517A>T	NCBI36
NG_021151.1:g.40003A>T
NG_021151.2:g.39950A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1685A>T MANE Select	ENSP00000368100.4:p.Glu562Val
ENST00000638452.2:c.1388A>T	ENSP00000492349.2:p.Glu463Val
ENST00000638504.1:n.1371A>T
ENST00000638568.2:c.1388A>T	ENSP00000491158.2:p.Glu463Val
ENST00000639899.1:n.2204A>T
ENST00000640655.2:c.1388A>T	ENSP00000491596.2:p.Glu463Val
ENST00000651160.1:c.1685A>T	ENSP00000498829.1:p.Glu562Val
ENST00000651541.1:c.1388A>T	ENSP00000498795.1:p.Glu463Val
ENST00000651658.1:n.2112A>T
ENST00000651723.1:c.*1768A>T	ENSP00000498237.1:n.*1768A>T
ENST00000652016.1:c.1685A>T	ENSP00000498267.1:p.Glu562Val
ENST00000652485.1:c.1718A>T	ENSP00000498973.1:p.Glu573Val
ENST00000378823.7:c.1685A>T	ENSP00000368100.4:p.Glu562Val
ENST00000423956.5:c.1635+520A>T	ENSP00000390971.1:n.1635+520A>T
ENST00000434288.1:c.180A>T
ENST00000453394.5:c.1502A>T	ENSP00000400049.1:p.Glu501Val
ENST00000533482.5:c.*1311A>T	ENSP00000431225.1:n.*1311A>T
NM_005732.3:c.1685A>T	NP_005723.2:p.Glu562Val
NM_005732.4:c.1685A>T MANE Select	NP_005723.2:p.Glu562Val