Canonical Allele Identifier: CA360946529

Gene: RAD50

Linked Data

• gnomAD v4: 5-132591971-A-T
• MyVariant Identifiers: chr5:g.131927663A>T (hg19) ; chr5:g.132591971A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591971A>T , CM000667.2:g.132591971A>T	GRCh38
NC_000005.9:g.131927663A>T , CM000667.1:g.131927663A>T	GRCh37
NC_000005.8:g.131955562A>T	NCBI36
NG_021151.1:g.40048A>T
NG_021151.2:g.39995A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1730A>T MANE Select	ENSP00000368100.4:p.Glu577Val
ENST00000638452.2:c.1433A>T	ENSP00000492349.2:p.Glu478Val
ENST00000638504.1:n.1416A>T
ENST00000638568.2:c.1433A>T	ENSP00000491158.2:p.Glu478Val
ENST00000639899.1:n.2249A>T
ENST00000640655.2:c.1433A>T	ENSP00000491596.2:p.Glu478Val
ENST00000651160.1:c.1730A>T	ENSP00000498829.1:p.Glu577Val
ENST00000651541.1:c.1433A>T	ENSP00000498795.1:p.Glu478Val
ENST00000651658.1:n.2157A>T
ENST00000651723.1:c.*1813A>T	ENSP00000498237.1:n.*1813A>T
ENST00000652016.1:c.1730A>T	ENSP00000498267.1:p.Glu577Val
ENST00000652485.1:c.1763A>T	ENSP00000498973.1:p.Glu588Val
ENST00000378823.7:c.1730A>T	ENSP00000368100.4:p.Glu577Val
ENST00000423956.5:c.1635+565A>T	ENSP00000390971.1:n.1635+565A>T
ENST00000434288.1:c.225A>T
ENST00000453394.5:c.1547A>T	ENSP00000400049.1:p.Glu516Val
ENST00000533482.5:c.*1356A>T	ENSP00000431225.1:n.*1356A>T
NM_005732.3:c.1730A>T	NP_005723.2:p.Glu577Val
NM_005732.4:c.1730A>T MANE Select	NP_005723.2:p.Glu577Val