Canonical Allele Identifier: CA360948144

Gene: RAD50

Linked Data

• gnomAD v4: 5-132594986-T-G
• MyVariant Identifiers: chr5:g.131930678T>G (hg19) ; chr5:g.132594986T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594986T>G , CM000667.2:g.132594986T>G	GRCh38
NC_000005.9:g.131930678T>G , CM000667.1:g.131930678T>G	GRCh37
NC_000005.8:g.131958577T>G	NCBI36
NG_021151.1:g.43063T>G
NG_021151.2:g.43010T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1911T>G MANE Select	ENSP00000368100.4:p.Asp637Glu
ENST00000638452.2:c.1614T>G	ENSP00000492349.2:p.Asp538Glu
ENST00000638504.1:n.1480-118T>G
ENST00000638568.2:c.1614T>G	ENSP00000491158.2:p.Asp538Glu
ENST00000639899.1:n.2430T>G
ENST00000640655.2:c.1614T>G	ENSP00000491596.2:p.Asp538Glu
ENST00000651160.1:c.*16-118T>G	ENSP00000498829.1:n.*16-118T>G
ENST00000651658.1:n.2454T>G
ENST00000651723.1:c.*1994T>G	ENSP00000498237.1:n.*1994T>G
ENST00000652016.1:c.*89-118T>G	ENSP00000498267.1:n.*89-118T>G
ENST00000652485.1:c.1944T>G	ENSP00000498973.1:p.Asp648Glu
ENST00000378823.7:c.1911T>G	ENSP00000368100.4:p.Asp637Glu
ENST00000423956.5:c.*97T>G	ENSP00000390971.1:n.*97T>G
ENST00000453394.5:c.1728T>G	ENSP00000400049.1:p.Asp576Glu
ENST00000533482.5:c.*1537T>G	ENSP00000431225.1:n.*1537T>G
NM_005732.3:c.1911T>G	NP_005723.2:p.Asp637Glu
NM_005732.4:c.1911T>G MANE Select	NP_005723.2:p.Asp637Glu