Canonical Allele Identifier: CA249347
Gene: RAD50 HGNC NCBI

Linked Data

ClinVar Variation Id: 37381
ClinVar RCV Id: RCV000115952 RCV000203146 RCV000412309 RCV000514683
dbSNP Id: rs181016343
ExAC: 5:131945093 G / A
gnomAD v2: 5-131945093-G-A
gnomAD v3: 5-132609401-G-A
gnomAD v4: 5-132609401-G-A
MyVariant Identifiers: chr5:g.131945093G>A (hg19) chr5:g.132609401G>A (hg38)
PubMed: PMID:24549055 PMID:25117502 PMID:26787654 PMID:27884173
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132609401G>A , CM000667.2:g.132609401G>A GRCh38
NC_000005.9:g.131945093G>A , CM000667.1:g.131945093G>A GRCh37
NC_000005.8:g.131972992G>A NCBI36
NG_021151.1:g.57478G>A
NG_021151.2:g.57425G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3036+5G>A MANE Select ENSP00000368100.4:n.3036+5G>A
ENST00000638452.2:c.2739+5G>A ENSP00000492349.2:n.2739+5G>A
ENST00000638504.1:n.2644+5G>A
ENST00000638568.2:c.2739+5G>A ENSP00000491158.2:n.2739+5G>A
ENST00000639899.1:n.3555+5G>A
ENST00000640655.2:c.2739+5G>A ENSP00000491596.2:n.2739+5G>A
ENST00000651723.1:c.*3119+5G>A ENSP00000498237.1:n.*3119+5G>A
ENST00000378823.7:c.3036+5G>A ENSP00000368100.4:n.3036+5G>A
ENST00000533482.5:c.*2662+5G>A ENSP00000431225.1:n.*2662+5G>A
NM_005732.3:c.3036+5G>A NP_005723.2:n.3036+5G>A
NM_005732.4:c.3036+5G>A MANE Select NP_005723.2:n.3036+5G>A
Search 100 bp 5'
Search 100 bp 3'