Canonical Allele Identifier: CA360956385

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940544G>T (hg19) ; chr5:g.132604852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604852G>T , CM000667.2:g.132604852G>T	GRCh38
NC_000005.9:g.131940544G>T , CM000667.1:g.131940544G>T	GRCh37
NC_000005.8:g.131968443G>T	NCBI36
NG_021151.1:g.52929G>T
NG_021151.2:g.52876G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2571G>T MANE Select	ENSP00000368100.4:p.Gln857His
ENST00000638452.2:c.2274G>T	ENSP00000492349.2:p.Gln758His
ENST00000638504.1:n.2179G>T
ENST00000638568.2:c.2274G>T	ENSP00000491158.2:p.Gln758His
ENST00000639899.1:n.3090G>T
ENST00000640655.2:c.2274G>T	ENSP00000491596.2:p.Gln758His
ENST00000651160.1:c.*715G>T	ENSP00000498829.1:n.*715G>T
ENST00000651723.1:c.*2654G>T	ENSP00000498237.1:n.*2654G>T
ENST00000652016.1:c.*788G>T	ENSP00000498267.1:n.*788G>T
ENST00000652485.1:c.2604G>T	ENSP00000498973.1:p.Gln868His
ENST00000378823.7:c.2571G>T	ENSP00000368100.4:p.Gln857His
ENST00000423956.5:c.*757G>T	ENSP00000390971.1:n.*757G>T
ENST00000533482.5:c.*2197G>T	ENSP00000431225.1:n.*2197G>T
NM_005732.3:c.2571G>T	NP_005723.2:p.Gln857His
NM_005732.4:c.2571G>T MANE Select	NP_005723.2:p.Gln857His