Canonical Allele Identifier: CA3404899

Gene: RAD50

Linked Data

• dbSNP Id: rs769034436
• ExAC: 5:131893166 T / C
• gnomAD v2: 5-131893166-T-C
• gnomAD v4: 5-132557474-T-C
• MyVariant Identifiers: chr5:g.131893166T>C (hg19) ; chr5:g.132557474T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557474T>C , CM000667.2:g.132557474T>C	GRCh38
NC_000005.9:g.131893166T>C , CM000667.1:g.131893166T>C	GRCh37
NC_000005.8:g.131921065T>C	NCBI36
NG_021151.1:g.5551T>C
NG_021151.2:g.5498T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.129+21T>C MANE Select	ENSP00000368100.4:n.129+21T>C
ENST00000638452.2:c.-168-1810T>C	ENSP00000492349.2:n.-168-1810T>C
ENST00000638504.1:n.207-1810T>C
ENST00000638568.2:c.-169+1001T>C	ENSP00000491158.2:n.-169+1001T>C
ENST00000639899.1:n.290-1810T>C
ENST00000640655.2:c.-168-1810T>C	ENSP00000491596.2:n.-168-1810T>C
ENST00000651160.1:c.129+21T>C	ENSP00000498829.1:n.129+21T>C
ENST00000651541.1:c.-169+465T>C	ENSP00000498795.1:n.-169+465T>C
ENST00000651658.1:n.197+21T>C
ENST00000651723.1:c.*6T>C	ENSP00000498237.1:n.*6T>C
ENST00000652016.1:c.129+21T>C	ENSP00000498267.1:n.129+21T>C
ENST00000652485.1:c.129+21T>C	ENSP00000498973.1:n.129+21T>C
ENST00000378823.7:c.129+21T>C	ENSP00000368100.4:n.129+21T>C
ENST00000416135.5:c.-169+1001T>C	ENSP00000389515.1:n.-169+1001T>C
ENST00000423956.5:c.129+21T>C	ENSP00000390971.1:n.129+21T>C
ENST00000453394.5:c.129+21T>C	ENSP00000400049.1:n.129+21T>C
ENST00000533482.5:c.129+21T>C	ENSP00000431225.1:n.129+21T>C
NM_005732.3:c.129+21T>C	NP_005723.2:n.129+21T>C
NM_005732.4:c.129+21T>C MANE Select	NP_005723.2:n.129+21T>C