Canonical Allele Identifier: CA360960689

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131945033A>T (hg19) ; chr5:g.132609341A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609341A>T , CM000667.2:g.132609341A>T	GRCh38
NC_000005.9:g.131945033A>T , CM000667.1:g.131945033A>T	GRCh37
NC_000005.8:g.131972932A>T	NCBI36
NG_021151.1:g.57418A>T
NG_021151.2:g.57365A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2981A>T MANE Select	ENSP00000368100.4:p.Lys994Ile
ENST00000638452.2:c.2684A>T	ENSP00000492349.2:p.Lys895Ile
ENST00000638504.1:n.2589A>T
ENST00000638568.2:c.2684A>T	ENSP00000491158.2:p.Lys895Ile
ENST00000639899.1:n.3500A>T
ENST00000640655.2:c.2684A>T	ENSP00000491596.2:p.Lys895Ile
ENST00000651160.1:c.*1125A>T	ENSP00000498829.1:n.*1125A>T
ENST00000651723.1:c.*3064A>T	ENSP00000498237.1:n.*3064A>T
ENST00000378823.7:c.2981A>T	ENSP00000368100.4:p.Lys994Ile
ENST00000533482.5:c.*2607A>T	ENSP00000431225.1:n.*2607A>T
NM_005732.3:c.2981A>T	NP_005723.2:p.Lys994Ile
NM_005732.4:c.2981A>T MANE Select	NP_005723.2:p.Lys994Ile