Canonical Allele Identifier: CA360956458

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940561T>A (hg19) ; chr5:g.132604869T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604869T>A , CM000667.2:g.132604869T>A	GRCh38
NC_000005.9:g.131940561T>A , CM000667.1:g.131940561T>A	GRCh37
NC_000005.8:g.131968460T>A	NCBI36
NG_021151.1:g.52946T>A
NG_021151.2:g.52893T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2588T>A MANE Select	ENSP00000368100.4:p.Leu863Gln
ENST00000638452.2:c.2291T>A	ENSP00000492349.2:p.Leu764Gln
ENST00000638504.1:n.2196T>A
ENST00000638568.2:c.2291T>A	ENSP00000491158.2:p.Leu764Gln
ENST00000639899.1:n.3107T>A
ENST00000640655.2:c.2291T>A	ENSP00000491596.2:p.Leu764Gln
ENST00000651160.1:c.*732T>A	ENSP00000498829.1:n.*732T>A
ENST00000651723.1:c.*2671T>A	ENSP00000498237.1:n.*2671T>A
ENST00000652016.1:c.*805T>A	ENSP00000498267.1:n.*805T>A
ENST00000652485.1:c.2621T>A	ENSP00000498973.1:p.Leu874Gln
ENST00000378823.7:c.2588T>A	ENSP00000368100.4:p.Leu863Gln
ENST00000423956.5:c.*774T>A	ENSP00000390971.1:n.*774T>A
ENST00000533482.5:c.*2214T>A	ENSP00000431225.1:n.*2214T>A
NM_005732.3:c.2588T>A	NP_005723.2:p.Leu863Gln
NM_005732.4:c.2588T>A MANE Select	NP_005723.2:p.Leu863Gln