Canonical Allele Identifier: CA360964857

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953918G>A (hg19) ; chr5:g.132618226G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618226G>A , CM000667.2:g.132618226G>A	GRCh38
NC_000005.9:g.131953918G>A , CM000667.1:g.131953918G>A	GRCh37
NC_000005.8:g.131981817G>A	NCBI36
NG_021151.1:g.66303G>A
NG_021151.2:g.66250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3321G>A MANE Select	ENSP00000368100.4:p.Met1107Ile
ENST00000638452.2:c.3024G>A	ENSP00000492349.2:p.Met1008Ile
ENST00000638504.1:n.2929G>A
ENST00000638568.2:c.3024G>A	ENSP00000491158.2:p.Met1008Ile
ENST00000639899.1:n.3840G>A
ENST00000640655.2:c.3024G>A	ENSP00000491596.2:p.Met1008Ile
ENST00000651249.1:c.157G>A
ENST00000378823.7:c.3321G>A	ENSP00000368100.4:p.Met1107Ile
ENST00000533482.5:c.*2947G>A	ENSP00000431225.1:n.*2947G>A
NM_005732.3:c.3321G>A	NP_005723.2:p.Met1107Ile
NM_005732.4:c.3321G>A MANE Select	NP_005723.2:p.Met1107Ile