Canonical Allele Identifier: CA360959843

Gene: RAD50

Linked Data

• gnomAD v4: 5-132609179-T-A
• MyVariant Identifiers: chr5:g.131944871T>A (hg19) ; chr5:g.132609179T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609179T>A , CM000667.2:g.132609179T>A	GRCh38
NC_000005.9:g.131944871T>A , CM000667.1:g.131944871T>A	GRCh37
NC_000005.8:g.131972770T>A	NCBI36
NG_021151.1:g.57256T>A
NG_021151.2:g.57203T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2892T>A MANE Select	ENSP00000368100.4:p.Tyr964Ter
ENST00000638452.2:c.2595T>A	ENSP00000492349.2:p.Tyr865Ter
ENST00000638504.1:n.2500T>A
ENST00000638568.2:c.2595T>A	ENSP00000491158.2:p.Tyr865Ter
ENST00000639899.1:n.3411T>A
ENST00000640655.2:c.2595T>A	ENSP00000491596.2:p.Tyr865Ter
ENST00000651160.1:c.*1036T>A	ENSP00000498829.1:n.*1036T>A
ENST00000651723.1:c.*2975T>A	ENSP00000498237.1:n.*2975T>A
ENST00000378823.7:c.2892T>A	ENSP00000368100.4:p.Tyr964Ter
ENST00000423956.5:c.*1078T>A	ENSP00000390971.1:n.*1078T>A
ENST00000533482.5:c.*2518T>A	ENSP00000431225.1:n.*2518T>A
NM_005732.3:c.2892T>A	NP_005723.2:p.Tyr964Ter
NM_005732.4:c.2892T>A MANE Select	NP_005723.2:p.Tyr964Ter