Canonical Allele Identifier: CA360946569

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131927671C>A (hg19) ; chr5:g.132591979C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591979C>A , CM000667.2:g.132591979C>A	GRCh38
NC_000005.9:g.131927671C>A , CM000667.1:g.131927671C>A	GRCh37
NC_000005.8:g.131955570C>A	NCBI36
NG_021151.1:g.40056C>A
NG_021151.2:g.40003C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1738C>A MANE Select	ENSP00000368100.4:p.Leu580Ile
ENST00000638452.2:c.1441C>A	ENSP00000492349.2:p.Leu481Ile
ENST00000638504.1:n.1424C>A
ENST00000638568.2:c.1441C>A	ENSP00000491158.2:p.Leu481Ile
ENST00000639899.1:n.2257C>A
ENST00000640655.2:c.1441C>A	ENSP00000491596.2:p.Leu481Ile
ENST00000651160.1:c.1738C>A	ENSP00000498829.1:p.Leu580Ile
ENST00000651541.1:c.1441C>A	ENSP00000498795.1:p.Leu481Ile
ENST00000651658.1:n.2165C>A
ENST00000651723.1:c.*1821C>A	ENSP00000498237.1:n.*1821C>A
ENST00000652016.1:c.1738C>A	ENSP00000498267.1:p.Leu580Ile
ENST00000652485.1:c.1771C>A	ENSP00000498973.1:p.Leu591Ile
ENST00000378823.7:c.1738C>A	ENSP00000368100.4:p.Leu580Ile
ENST00000423956.5:c.1635+573C>A	ENSP00000390971.1:n.1635+573C>A
ENST00000434288.1:c.233C>A
ENST00000453394.5:c.1555C>A	ENSP00000400049.1:p.Leu519Ile
ENST00000533482.5:c.*1364C>A	ENSP00000431225.1:n.*1364C>A
NM_005732.3:c.1738C>A	NP_005723.2:p.Leu580Ile
NM_005732.4:c.1738C>A MANE Select	NP_005723.2:p.Leu580Ile