Canonical Allele Identifier: CA360956950

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940674T>A (hg19) ; chr5:g.132604982T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604982T>A , CM000667.2:g.132604982T>A	GRCh38
NC_000005.9:g.131940674T>A , CM000667.1:g.131940674T>A	GRCh37
NC_000005.8:g.131968573T>A	NCBI36
NG_021151.1:g.53059T>A
NG_021151.2:g.53006T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2701T>A MANE Select	ENSP00000368100.4:p.Leu901Met
ENST00000638452.2:c.2404T>A	ENSP00000492349.2:p.Leu802Met
ENST00000638504.1:n.2309T>A
ENST00000638568.2:c.2404T>A	ENSP00000491158.2:p.Leu802Met
ENST00000639899.1:n.3220T>A
ENST00000640655.2:c.2404T>A	ENSP00000491596.2:p.Leu802Met
ENST00000651160.1:c.*845T>A	ENSP00000498829.1:n.*845T>A
ENST00000651723.1:c.*2784T>A	ENSP00000498237.1:n.*2784T>A
ENST00000652016.1:c.*918T>A	ENSP00000498267.1:n.*918T>A
ENST00000378823.7:c.2701T>A	ENSP00000368100.4:p.Leu901Met
ENST00000423956.5:c.*887T>A	ENSP00000390971.1:n.*887T>A
ENST00000533482.5:c.*2327T>A	ENSP00000431225.1:n.*2327T>A
NM_005732.3:c.2701T>A	NP_005723.2:p.Leu901Met
NM_005732.4:c.2701T>A MANE Select	NP_005723.2:p.Leu901Met