Canonical Allele Identifier: CA16611834

Gene: RAD50

Linked Data

• ClinVar Variation Id: 408376
• ClinVar RCV Id: RCV000460237
• dbSNP Id: rs1060501955
• MyVariant Identifiers: chr5:g.131931315A>G (hg19) ; chr5:g.132595623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595623A>G , CM000667.2:g.132595623A>G	GRCh38
NC_000005.9:g.131931315A>G , CM000667.1:g.131931315A>G	GRCh37
NC_000005.8:g.131959214A>G	NCBI36
NG_021151.1:g.43700A>G
NG_021151.2:g.43647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2020A>G MANE Select	ENSP00000368100.4:p.Thr674Ala
ENST00000638452.2:c.1723A>G	ENSP00000492349.2:p.Thr575Ala
ENST00000638504.1:n.1628A>G
ENST00000638568.2:c.1723A>G	ENSP00000491158.2:p.Thr575Ala
ENST00000639899.1:n.2539A>G
ENST00000640655.2:c.1723A>G	ENSP00000491596.2:p.Thr575Ala
ENST00000651160.1:c.*164A>G	ENSP00000498829.1:n.*164A>G
ENST00000651658.1:n.2563A>G
ENST00000651723.1:c.*2103A>G	ENSP00000498237.1:n.*2103A>G
ENST00000652016.1:c.*237A>G	ENSP00000498267.1:n.*237A>G
ENST00000652485.1:c.2053A>G	ENSP00000498973.1:p.Thr685Ala
ENST00000378823.7:c.2020A>G	ENSP00000368100.4:p.Thr674Ala
ENST00000423956.5:c.*206A>G	ENSP00000390971.1:n.*206A>G
ENST00000453394.5:c.1837A>G	ENSP00000400049.1:p.Thr613Ala
ENST00000496204.1:n.103A>G
ENST00000533482.5:c.*1646A>G	ENSP00000431225.1:n.*1646A>G
NM_005732.3:c.2020A>G	NP_005723.2:p.Thr674Ala
NM_005732.4:c.2020A>G MANE Select	NP_005723.2:p.Thr674Ala