Canonical Allele Identifier: CA360956423

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604860-T-G
• MyVariant Identifiers: chr5:g.131940552T>G (hg19) ; chr5:g.132604860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604860T>G , CM000667.2:g.132604860T>G	GRCh38
NC_000005.9:g.131940552T>G , CM000667.1:g.131940552T>G	GRCh37
NC_000005.8:g.131968451T>G	NCBI36
NG_021151.1:g.52937T>G
NG_021151.2:g.52884T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2579T>G MANE Select	ENSP00000368100.4:p.Ile860Ser
ENST00000638452.2:c.2282T>G	ENSP00000492349.2:p.Ile761Ser
ENST00000638504.1:n.2187T>G
ENST00000638568.2:c.2282T>G	ENSP00000491158.2:p.Ile761Ser
ENST00000639899.1:n.3098T>G
ENST00000640655.2:c.2282T>G	ENSP00000491596.2:p.Ile761Ser
ENST00000651160.1:c.*723T>G	ENSP00000498829.1:n.*723T>G
ENST00000651723.1:c.*2662T>G	ENSP00000498237.1:n.*2662T>G
ENST00000652016.1:c.*796T>G	ENSP00000498267.1:n.*796T>G
ENST00000652485.1:c.2612T>G	ENSP00000498973.1:p.Ile871Ser
ENST00000378823.7:c.2579T>G	ENSP00000368100.4:p.Ile860Ser
ENST00000423956.5:c.*765T>G	ENSP00000390971.1:n.*765T>G
ENST00000533482.5:c.*2205T>G	ENSP00000431225.1:n.*2205T>G
NM_005732.3:c.2579T>G	NP_005723.2:p.Ile860Ser
NM_005732.4:c.2579T>G MANE Select	NP_005723.2:p.Ile860Ser