Canonical Allele Identifier: CA360948632

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930730C>A (hg19) ; chr5:g.132595038C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595038C>A , CM000667.2:g.132595038C>A	GRCh38
NC_000005.9:g.131930730C>A , CM000667.1:g.131930730C>A	GRCh37
NC_000005.8:g.131958629C>A	NCBI36
NG_021151.1:g.43115C>A
NG_021151.2:g.43062C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1963C>A MANE Select	ENSP00000368100.4:p.Gln655Lys
ENST00000638452.2:c.1666C>A	ENSP00000492349.2:p.Gln556Lys
ENST00000638504.1:n.1480-66C>A
ENST00000638568.2:c.1666C>A	ENSP00000491158.2:p.Gln556Lys
ENST00000639899.1:n.2482C>A
ENST00000640655.2:c.1666C>A	ENSP00000491596.2:p.Gln556Lys
ENST00000651160.1:c.*16-66C>A	ENSP00000498829.1:n.*16-66C>A
ENST00000651658.1:n.2506C>A
ENST00000651723.1:c.*2046C>A	ENSP00000498237.1:n.*2046C>A
ENST00000652016.1:c.*89-66C>A	ENSP00000498267.1:n.*89-66C>A
ENST00000652485.1:c.1996C>A	ENSP00000498973.1:p.Gln666Lys
ENST00000378823.7:c.1963C>A	ENSP00000368100.4:p.Gln655Lys
ENST00000423956.5:c.*149C>A	ENSP00000390971.1:n.*149C>A
ENST00000453394.5:c.1780C>A	ENSP00000400049.1:p.Gln594Lys
ENST00000533482.5:c.*1589C>A	ENSP00000431225.1:n.*1589C>A
NM_005732.3:c.1963C>A	NP_005723.2:p.Gln655Lys
NM_005732.4:c.1963C>A MANE Select	NP_005723.2:p.Gln655Lys