Canonical Allele Identifier: CA3405425

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1035234
• ClinVar RCV Id: RCV001338073
• dbSNP Id: rs749214928
• ExAC: 5:131940504 G / A
• gnomAD v2: 5-131940504-G-A
• gnomAD v4: 5-132604812-G-A
• MyVariant Identifiers: chr5:g.131940504G>A (hg19) ; chr5:g.132604812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604812G>A , CM000667.2:g.132604812G>A	GRCh38
NC_000005.9:g.131940504G>A , CM000667.1:g.131940504G>A	GRCh37
NC_000005.8:g.131968403G>A	NCBI36
NG_021151.1:g.52889G>A
NG_021151.2:g.52836G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2531G>A MANE Select	ENSP00000368100.4:p.Ser844Asn
ENST00000638452.2:c.2234G>A	ENSP00000492349.2:p.Ser745Asn
ENST00000638504.1:n.2139G>A
ENST00000638568.2:c.2234G>A	ENSP00000491158.2:p.Ser745Asn
ENST00000639899.1:n.3050G>A
ENST00000640655.2:c.2234G>A	ENSP00000491596.2:p.Ser745Asn
ENST00000651160.1:c.*675G>A	ENSP00000498829.1:n.*675G>A
ENST00000651723.1:c.*2614G>A	ENSP00000498237.1:n.*2614G>A
ENST00000652016.1:c.*748G>A	ENSP00000498267.1:n.*748G>A
ENST00000652485.1:c.2564G>A	ENSP00000498973.1:p.Ser855Asn
ENST00000378823.7:c.2531G>A	ENSP00000368100.4:p.Ser844Asn
ENST00000423956.5:c.*717G>A	ENSP00000390971.1:n.*717G>A
ENST00000533482.5:c.*2157G>A	ENSP00000431225.1:n.*2157G>A
NM_005732.3:c.2531G>A	NP_005723.2:p.Ser844Asn
NM_005732.4:c.2531G>A MANE Select	NP_005723.2:p.Ser844Asn