Canonical Allele Identifier: CA1583242129

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595606A= , CM000667.2:g.132595606A=	GRCh38
NC_000005.9:g.131931298A= , CM000667.1:g.131931298A=	GRCh37
NC_000005.8:g.131959197A=	NCBI36
NG_021151.1:g.43683A=
NG_021151.2:g.43630A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2003A= MANE Select	ENSP00000368100.4:p.Gln668=
ENST00000638452.2:c.1706A=	ENSP00000492349.2:p.Gln569=
ENST00000638504.1:n.1611A=
ENST00000638568.2:c.1706A=	ENSP00000491158.2:p.Gln569=
ENST00000639899.1:n.2522A=
ENST00000640655.2:c.1706A=	ENSP00000491596.2:p.Gln569=
ENST00000651160.1:c.*147A=	ENSP00000498829.1:n.*147A=
ENST00000651658.1:n.2546A=
ENST00000651723.1:c.*2086A=	ENSP00000498237.1:n.*2086A=
ENST00000652016.1:c.*220A=	ENSP00000498267.1:n.*220A=
ENST00000652485.1:c.2036A=	ENSP00000498973.1:p.Gln679=
ENST00000378823.7:c.2003A=	ENSP00000368100.4:p.Gln668=
ENST00000423956.5:c.*189A=	ENSP00000390971.1:n.*189A=
ENST00000453394.5:c.1820A=	ENSP00000400049.1:p.Gln607=
ENST00000496204.1:n.86A=
ENST00000533482.5:c.*1629A=	ENSP00000431225.1:n.*1629A=
NM_005732.3:c.2003A=	NP_005723.2:p.Gln668=
NM_005732.4:c.2003A= MANE Select	NP_005723.2:p.Gln668=