Canonical Allele Identifier: CA446362891

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931314A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595622A>T , CM000667.2:g.132595622A>T	GRCh38
NC_000005.9:g.131931314A>T , CM000667.1:g.131931314A>T	GRCh37
NC_000005.8:g.131959213A>T	NCBI36
NG_021151.1:g.43699A>T
NG_021151.2:g.43646A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2019A>T MANE Select	ENSP00000368100.4:p.Leu673=
ENST00000638452.2:c.1722A>T	ENSP00000492349.2:p.Leu574=
ENST00000638504.1:n.1627A>T
ENST00000638568.2:c.1722A>T	ENSP00000491158.2:p.Leu574=
ENST00000639899.1:n.2538A>T
ENST00000640655.2:c.1722A>T	ENSP00000491596.2:p.Leu574=
ENST00000651160.1:c.*163A>T	ENSP00000498829.1:n.*163A>T
ENST00000651658.1:n.2562A>T
ENST00000651723.1:c.*2102A>T	ENSP00000498237.1:n.*2102A>T
ENST00000652016.1:c.*236A>T	ENSP00000498267.1:n.*236A>T
ENST00000652485.1:c.2052A>T	ENSP00000498973.1:p.Leu684=
ENST00000378823.7:c.2019A>T	ENSP00000368100.4:p.Leu673=
ENST00000423956.5:c.*205A>T	ENSP00000390971.1:n.*205A>T
ENST00000453394.5:c.1836A>T	ENSP00000400049.1:p.Leu612=
ENST00000496204.1:n.102A>T
ENST00000533482.5:c.*1645A>T	ENSP00000431225.1:n.*1645A>T
NM_005732.3:c.2019A>T	NP_005723.2:p.Leu673=
NM_005732.4:c.2019A>T MANE Select	NP_005723.2:p.Leu673=