Canonical Allele Identifier: CA360960705

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131945035G>A (hg19) ; chr5:g.132609343G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609343G>A , CM000667.2:g.132609343G>A	GRCh38
NC_000005.9:g.131945035G>A , CM000667.1:g.131945035G>A	GRCh37
NC_000005.8:g.131972934G>A	NCBI36
NG_021151.1:g.57420G>A
NG_021151.2:g.57367G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2983G>A MANE Select	ENSP00000368100.4:p.Glu995Lys
ENST00000638452.2:c.2686G>A	ENSP00000492349.2:p.Glu896Lys
ENST00000638504.1:n.2591G>A
ENST00000638568.2:c.2686G>A	ENSP00000491158.2:p.Glu896Lys
ENST00000639899.1:n.3502G>A
ENST00000640655.2:c.2686G>A	ENSP00000491596.2:p.Glu896Lys
ENST00000651723.1:c.*3066G>A	ENSP00000498237.1:n.*3066G>A
ENST00000378823.7:c.2983G>A	ENSP00000368100.4:p.Glu995Lys
ENST00000533482.5:c.*2609G>A	ENSP00000431225.1:n.*2609G>A
NM_005732.3:c.2983G>A	NP_005723.2:p.Glu995Lys
NM_005732.4:c.2983G>A MANE Select	NP_005723.2:p.Glu995Lys