Canonical Allele Identifier: CA360964851

Gene: RAD50

Linked Data

• ClinVar Variation Id: 569529
• ClinVar RCV Id: RCV000690181
• dbSNP Id: rs587782508
• MyVariant Identifiers: chr5:g.131953916A>T (hg19) ; chr5:g.132618224A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618224A>T , CM000667.2:g.132618224A>T	GRCh38
NC_000005.9:g.131953916A>T , CM000667.1:g.131953916A>T	GRCh37
NC_000005.8:g.131981815A>T	NCBI36
NG_021151.1:g.66301A>T
NG_021151.2:g.66248A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3319A>T MANE Select	ENSP00000368100.4:p.Met1107Leu
ENST00000638452.2:c.3022A>T	ENSP00000492349.2:p.Met1008Leu
ENST00000638504.1:n.2927A>T
ENST00000638568.2:c.3022A>T	ENSP00000491158.2:p.Met1008Leu
ENST00000639899.1:n.3838A>T
ENST00000640655.2:c.3022A>T	ENSP00000491596.2:p.Met1008Leu
ENST00000651249.1:c.155A>T
ENST00000378823.7:c.3319A>T	ENSP00000368100.4:p.Met1107Leu
ENST00000533482.5:c.*2945A>T	ENSP00000431225.1:n.*2945A>T
NM_005732.3:c.3319A>T	NP_005723.2:p.Met1107Leu
NM_005732.4:c.3319A>T MANE Select	NP_005723.2:p.Met1107Leu