Canonical Allele Identifier: CA360955280

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131939613T>A (hg19) ; chr5:g.132603921T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603921T>A , CM000667.2:g.132603921T>A	GRCh38
NC_000005.9:g.131939613T>A , CM000667.1:g.131939613T>A	GRCh37
NC_000005.8:g.131967512T>A	NCBI36
NG_021151.1:g.51998T>A
NG_021151.2:g.51945T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2399T>A MANE Select	ENSP00000368100.4:p.Met800Lys
ENST00000638452.2:c.2102T>A	ENSP00000492349.2:p.Met701Lys
ENST00000638504.1:n.2007T>A
ENST00000638568.2:c.2102T>A	ENSP00000491158.2:p.Met701Lys
ENST00000639899.1:n.2918T>A
ENST00000640655.2:c.2102T>A	ENSP00000491596.2:p.Met701Lys
ENST00000651160.1:c.*543T>A	ENSP00000498829.1:n.*543T>A
ENST00000651658.1:n.2942T>A
ENST00000651723.1:c.*2482T>A	ENSP00000498237.1:n.*2482T>A
ENST00000652016.1:c.*616T>A	ENSP00000498267.1:n.*616T>A
ENST00000652485.1:c.2432T>A	ENSP00000498973.1:p.Met811Lys
ENST00000378823.7:c.2399T>A	ENSP00000368100.4:p.Met800Lys
ENST00000423956.5:c.*585T>A	ENSP00000390971.1:n.*585T>A
ENST00000533482.5:c.*2025T>A	ENSP00000431225.1:n.*2025T>A
NM_005732.3:c.2399T>A	NP_005723.2:p.Met800Lys
NM_005732.4:c.2399T>A MANE Select	NP_005723.2:p.Met800Lys