Canonical Allele Identifier: CA360956441

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940556A>T (hg19) ; chr5:g.132604864A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604864A>T , CM000667.2:g.132604864A>T	GRCh38
NC_000005.9:g.131940556A>T , CM000667.1:g.131940556A>T	GRCh37
NC_000005.8:g.131968455A>T	NCBI36
NG_021151.1:g.52941A>T
NG_021151.2:g.52888A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2583A>T MANE Select	ENSP00000368100.4:p.Gln861His
ENST00000638452.2:c.2286A>T	ENSP00000492349.2:p.Gln762His
ENST00000638504.1:n.2191A>T
ENST00000638568.2:c.2286A>T	ENSP00000491158.2:p.Gln762His
ENST00000639899.1:n.3102A>T
ENST00000640655.2:c.2286A>T	ENSP00000491596.2:p.Gln762His
ENST00000651160.1:c.*727A>T	ENSP00000498829.1:n.*727A>T
ENST00000651723.1:c.*2666A>T	ENSP00000498237.1:n.*2666A>T
ENST00000652016.1:c.*800A>T	ENSP00000498267.1:n.*800A>T
ENST00000652485.1:c.2616A>T	ENSP00000498973.1:p.Gln872His
ENST00000378823.7:c.2583A>T	ENSP00000368100.4:p.Gln861His
ENST00000423956.5:c.*769A>T	ENSP00000390971.1:n.*769A>T
ENST00000533482.5:c.*2209A>T	ENSP00000431225.1:n.*2209A>T
NM_005732.3:c.2583A>T	NP_005723.2:p.Gln861His
NM_005732.4:c.2583A>T MANE Select	NP_005723.2:p.Gln861His