Canonical Allele Identifier: CA360956723

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940621G>T (hg19) ; chr5:g.132604929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604929G>T , CM000667.2:g.132604929G>T	GRCh38
NC_000005.9:g.131940621G>T , CM000667.1:g.131940621G>T	GRCh37
NC_000005.8:g.131968520G>T	NCBI36
NG_021151.1:g.53006G>T
NG_021151.2:g.52953G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2648G>T MANE Select	ENSP00000368100.4:p.Arg883Leu
ENST00000638452.2:c.2351G>T	ENSP00000492349.2:p.Arg784Leu
ENST00000638504.1:n.2256G>T
ENST00000638568.2:c.2351G>T	ENSP00000491158.2:p.Arg784Leu
ENST00000639899.1:n.3167G>T
ENST00000640655.2:c.2351G>T	ENSP00000491596.2:p.Arg784Leu
ENST00000651160.1:c.*792G>T	ENSP00000498829.1:n.*792G>T
ENST00000651723.1:c.*2731G>T	ENSP00000498237.1:n.*2731G>T
ENST00000652016.1:c.*865G>T	ENSP00000498267.1:n.*865G>T
ENST00000652485.1:c.2681G>T	ENSP00000498973.1:p.Arg894Leu
ENST00000378823.7:c.2648G>T	ENSP00000368100.4:p.Arg883Leu
ENST00000423956.5:c.*834G>T	ENSP00000390971.1:n.*834G>T
ENST00000533482.5:c.*2274G>T	ENSP00000431225.1:n.*2274G>T
NM_005732.3:c.2648G>T	NP_005723.2:p.Arg883Leu
NM_005732.4:c.2648G>T MANE Select	NP_005723.2:p.Arg883Leu