Canonical Allele Identifier: CA446361690

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131927661T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591969T>G , CM000667.2:g.132591969T>G	GRCh38
NC_000005.9:g.131927661T>G , CM000667.1:g.131927661T>G	GRCh37
NC_000005.8:g.131955560T>G	NCBI36
NG_021151.1:g.40046T>G
NG_021151.2:g.39993T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1728T>G MANE Select	ENSP00000368100.4:p.Leu576=
ENST00000638452.2:c.1431T>G	ENSP00000492349.2:p.Leu477=
ENST00000638504.1:n.1414T>G
ENST00000638568.2:c.1431T>G	ENSP00000491158.2:p.Leu477=
ENST00000639899.1:n.2247T>G
ENST00000640655.2:c.1431T>G	ENSP00000491596.2:p.Leu477=
ENST00000651160.1:c.1728T>G	ENSP00000498829.1:p.Leu576=
ENST00000651541.1:c.1431T>G	ENSP00000498795.1:p.Leu477=
ENST00000651658.1:n.2155T>G
ENST00000651723.1:c.*1811T>G	ENSP00000498237.1:n.*1811T>G
ENST00000652016.1:c.1728T>G	ENSP00000498267.1:p.Leu576=
ENST00000652485.1:c.1761T>G	ENSP00000498973.1:p.Leu587=
ENST00000378823.7:c.1728T>G	ENSP00000368100.4:p.Leu576=
ENST00000423956.5:c.1635+563T>G	ENSP00000390971.1:n.1635+563T>G
ENST00000434288.1:c.223T>G
ENST00000453394.5:c.1545T>G	ENSP00000400049.1:p.Leu515=
ENST00000533482.5:c.*1354T>G	ENSP00000431225.1:n.*1354T>G
NM_005732.3:c.1728T>G	NP_005723.2:p.Leu576=
NM_005732.4:c.1728T>G MANE Select	NP_005723.2:p.Leu576=