Canonical Allele Identifier: CA195824

Gene: RAD50

Linked Data

• ClinVar Variation Id: 186771
• ClinVar RCV Id: RCV000166417 ; RCV003483543 ; RCV003477629
• dbSNP Id: rs377466333
• ExAC: 5:131944870 A / T
• gnomAD v2: 5-131944870-A-T
• gnomAD v3: 5-132609178-A-T
• gnomAD v4: 5-132609178-A-T
• MyVariant Identifiers: chr5:g.131944870A>T (hg19) ; chr5:g.132609178A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609178A>T , CM000667.2:g.132609178A>T	GRCh38
NC_000005.9:g.131944870A>T , CM000667.1:g.131944870A>T	GRCh37
NC_000005.8:g.131972769A>T	NCBI36
NG_021151.1:g.57255A>T
NG_021151.2:g.57202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2891A>T MANE Select	ENSP00000368100.4:p.Tyr964Phe
ENST00000638452.2:c.2594A>T	ENSP00000492349.2:p.Tyr865Phe
ENST00000638504.1:n.2499A>T
ENST00000638568.2:c.2594A>T	ENSP00000491158.2:p.Tyr865Phe
ENST00000639899.1:n.3410A>T
ENST00000640655.2:c.2594A>T	ENSP00000491596.2:p.Tyr865Phe
ENST00000651160.1:c.*1035A>T	ENSP00000498829.1:n.*1035A>T
ENST00000651723.1:c.*2974A>T	ENSP00000498237.1:n.*2974A>T
ENST00000378823.7:c.2891A>T	ENSP00000368100.4:p.Tyr964Phe
ENST00000423956.5:c.*1077A>T	ENSP00000390971.1:n.*1077A>T
ENST00000533482.5:c.*2517A>T	ENSP00000431225.1:n.*2517A>T
NM_005732.3:c.2891A>T	NP_005723.2:p.Tyr964Phe
NM_005732.4:c.2891A>T MANE Select	NP_005723.2:p.Tyr964Phe