Canonical Allele Identifier: CA360956635

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940601G>T (hg19) ; chr5:g.132604909G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604909G>T , CM000667.2:g.132604909G>T	GRCh38
NC_000005.9:g.131940601G>T , CM000667.1:g.131940601G>T	GRCh37
NC_000005.8:g.131968500G>T	NCBI36
NG_021151.1:g.52986G>T
NG_021151.2:g.52933G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2628G>T MANE Select	ENSP00000368100.4:p.Gln876His
ENST00000638452.2:c.2331G>T	ENSP00000492349.2:p.Gln777His
ENST00000638504.1:n.2236G>T
ENST00000638568.2:c.2331G>T	ENSP00000491158.2:p.Gln777His
ENST00000639899.1:n.3147G>T
ENST00000640655.2:c.2331G>T	ENSP00000491596.2:p.Gln777His
ENST00000651160.1:c.*772G>T	ENSP00000498829.1:n.*772G>T
ENST00000651723.1:c.*2711G>T	ENSP00000498237.1:n.*2711G>T
ENST00000652016.1:c.*845G>T	ENSP00000498267.1:n.*845G>T
ENST00000652485.1:c.2661G>T	ENSP00000498973.1:p.Gln887His
ENST00000378823.7:c.2628G>T	ENSP00000368100.4:p.Gln876His
ENST00000423956.5:c.*814G>T	ENSP00000390971.1:n.*814G>T
ENST00000533482.5:c.*2254G>T	ENSP00000431225.1:n.*2254G>T
NM_005732.3:c.2628G>T	NP_005723.2:p.Gln876His
NM_005732.4:c.2628G>T MANE Select	NP_005723.2:p.Gln876His