Canonical Allele Identifier: CA360947688

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930611T>A (hg19) ; chr5:g.132594919T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594919T>A , CM000667.2:g.132594919T>A	GRCh38
NC_000005.9:g.131930611T>A , CM000667.1:g.131930611T>A	GRCh37
NC_000005.8:g.131958510T>A	NCBI36
NG_021151.1:g.42996T>A
NG_021151.2:g.42943T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1844T>A MANE Select	ENSP00000368100.4:p.Leu615Gln
ENST00000638452.2:c.1547T>A	ENSP00000492349.2:p.Leu516Gln
ENST00000638504.1:n.1480-185T>A
ENST00000638568.2:c.1547T>A	ENSP00000491158.2:p.Leu516Gln
ENST00000639899.1:n.2363T>A
ENST00000640655.2:c.1547T>A	ENSP00000491596.2:p.Leu516Gln
ENST00000651160.1:c.*16-185T>A	ENSP00000498829.1:n.*16-185T>A
ENST00000651658.1:n.2387T>A
ENST00000651723.1:c.*1927T>A	ENSP00000498237.1:n.*1927T>A
ENST00000652016.1:c.*89-185T>A	ENSP00000498267.1:n.*89-185T>A
ENST00000652485.1:c.1877T>A	ENSP00000498973.1:p.Leu626Gln
ENST00000378823.7:c.1844T>A	ENSP00000368100.4:p.Leu615Gln
ENST00000423956.5:c.*30T>A	ENSP00000390971.1:n.*30T>A
ENST00000453394.5:c.1661T>A	ENSP00000400049.1:p.Leu554Gln
ENST00000533482.5:c.*1470T>A	ENSP00000431225.1:n.*1470T>A
NM_005732.3:c.1844T>A	NP_005723.2:p.Leu615Gln
NM_005732.4:c.1844T>A MANE Select	NP_005723.2:p.Leu615Gln