Canonical Allele Identifier: CA1583242155

Gene: RAD50

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595656C= , CM000667.2:g.132595656C=	GRCh38
NC_000005.9:g.131931348C= , CM000667.1:g.131931348C=	GRCh37
NC_000005.8:g.131959247C=	NCBI36
NG_021151.1:g.43733C=
NG_021151.2:g.43680C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2053C= MANE Select	ENSP00000368100.4:p.Gln685=
ENST00000638452.2:c.1756C=	ENSP00000492349.2:p.Gln586=
ENST00000638504.1:n.1661C=
ENST00000638568.2:c.1756C=	ENSP00000491158.2:p.Gln586=
ENST00000639899.1:n.2572C=
ENST00000640655.2:c.1756C=	ENSP00000491596.2:p.Gln586=
ENST00000651160.1:c.*197C=	ENSP00000498829.1:n.*197C=
ENST00000651658.1:n.2596C=
ENST00000651723.1:c.*2136C=	ENSP00000498237.1:n.*2136C=
ENST00000652016.1:c.*270C=	ENSP00000498267.1:n.*270C=
ENST00000652485.1:c.2086C=	ENSP00000498973.1:p.Gln696=
ENST00000378823.7:c.2053C=	ENSP00000368100.4:p.Gln685=
ENST00000423956.5:c.*239C=	ENSP00000390971.1:n.*239C=
ENST00000453394.5:c.1870C=	ENSP00000400049.1:p.Gln624=
ENST00000496204.1:n.136C=
ENST00000533482.5:c.*1679C=	ENSP00000431225.1:n.*1679C=
NM_005732.3:c.2053C=	NP_005723.2:p.Gln685=
NM_005732.4:c.2053C= MANE Select	NP_005723.2:p.Gln685=