Canonical Allele Identifier: CA360956617

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940597T>A (hg19) ; chr5:g.132604905T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604905T>A , CM000667.2:g.132604905T>A	GRCh38
NC_000005.9:g.131940597T>A , CM000667.1:g.131940597T>A	GRCh37
NC_000005.8:g.131968496T>A	NCBI36
NG_021151.1:g.52982T>A
NG_021151.2:g.52929T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2624T>A MANE Select	ENSP00000368100.4:p.Leu875His
ENST00000638452.2:c.2327T>A	ENSP00000492349.2:p.Leu776His
ENST00000638504.1:n.2232T>A
ENST00000638568.2:c.2327T>A	ENSP00000491158.2:p.Leu776His
ENST00000639899.1:n.3143T>A
ENST00000640655.2:c.2327T>A	ENSP00000491596.2:p.Leu776His
ENST00000651160.1:c.*768T>A	ENSP00000498829.1:n.*768T>A
ENST00000651723.1:c.*2707T>A	ENSP00000498237.1:n.*2707T>A
ENST00000652016.1:c.*841T>A	ENSP00000498267.1:n.*841T>A
ENST00000652485.1:c.2657T>A	ENSP00000498973.1:p.Leu886His
ENST00000378823.7:c.2624T>A	ENSP00000368100.4:p.Leu875His
ENST00000423956.5:c.*810T>A	ENSP00000390971.1:n.*810T>A
ENST00000533482.5:c.*2250T>A	ENSP00000431225.1:n.*2250T>A
NM_005732.3:c.2624T>A	NP_005723.2:p.Leu875His
NM_005732.4:c.2624T>A MANE Select	NP_005723.2:p.Leu875His