Canonical Allele Identifier: CA360956221

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821414
• ClinVar RCV Id: RCV001015803 ; RCV003396604
• dbSNP Id: rs1220188545
• MyVariant Identifiers: chr5:g.131940511T>G (hg19) ; chr5:g.132604819T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604819T>G , CM000667.2:g.132604819T>G	GRCh38
NC_000005.9:g.131940511T>G , CM000667.1:g.131940511T>G	GRCh37
NC_000005.8:g.131968410T>G	NCBI36
NG_021151.1:g.52896T>G
NG_021151.2:g.52843T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2538T>G MANE Select	ENSP00000368100.4:p.Ile846Met
ENST00000638452.2:c.2241T>G	ENSP00000492349.2:p.Ile747Met
ENST00000638504.1:n.2146T>G
ENST00000638568.2:c.2241T>G	ENSP00000491158.2:p.Ile747Met
ENST00000639899.1:n.3057T>G
ENST00000640655.2:c.2241T>G	ENSP00000491596.2:p.Ile747Met
ENST00000651160.1:c.*682T>G	ENSP00000498829.1:n.*682T>G
ENST00000651723.1:c.*2621T>G	ENSP00000498237.1:n.*2621T>G
ENST00000652016.1:c.*755T>G	ENSP00000498267.1:n.*755T>G
ENST00000652485.1:c.2571T>G	ENSP00000498973.1:p.Ile857Met
ENST00000378823.7:c.2538T>G	ENSP00000368100.4:p.Ile846Met
ENST00000423956.5:c.*724T>G	ENSP00000390971.1:n.*724T>G
ENST00000533482.5:c.*2164T>G	ENSP00000431225.1:n.*2164T>G
NM_005732.3:c.2538T>G	NP_005723.2:p.Ile846Met
NM_005732.4:c.2538T>G MANE Select	NP_005723.2:p.Ile846Met