Canonical Allele Identifier: CA16611828

Gene: RAD50

Linked Data

• ClinVar Variation Id: 414953
• ClinVar RCV Id: RCV001501312 ; RCV003155196
• dbSNP Id: rs1060504397
• gnomAD v4: 5-132594860-T-C
• MyVariant Identifiers: chr5:g.131930552T>C (hg19) ; chr5:g.132594860T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594860T>C , CM000667.2:g.132594860T>C	GRCh38
NC_000005.9:g.131930552T>C , CM000667.1:g.131930552T>C	GRCh37
NC_000005.8:g.131958451T>C	NCBI36
NG_021151.1:g.42937T>C
NG_021151.2:g.42884T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1794-9T>C MANE Select	ENSP00000368100.4:n.1794-9T>C
ENST00000638452.2:c.1497-9T>C	ENSP00000492349.2:n.1497-9T>C
ENST00000638504.1:n.1480-244T>C
ENST00000638568.2:c.1497-9T>C	ENSP00000491158.2:n.1497-9T>C
ENST00000639899.1:n.2313-9T>C
ENST00000640655.2:c.1497-9T>C	ENSP00000491596.2:n.1497-9T>C
ENST00000651160.1:c.*16-244T>C	ENSP00000498829.1:n.*16-244T>C
ENST00000651658.1:n.2337-9T>C
ENST00000651723.1:c.*1877-9T>C	ENSP00000498237.1:n.*1877-9T>C
ENST00000652016.1:c.*88+183T>C	ENSP00000498267.1:n.*88+183T>C
ENST00000652485.1:c.1827-9T>C	ENSP00000498973.1:n.1827-9T>C
ENST00000378823.7:c.1794-9T>C	ENSP00000368100.4:n.1794-9T>C
ENST00000423956.5:c.1636-9T>C	ENSP00000390971.1:n.1636-9T>C
ENST00000453394.5:c.1611-9T>C	ENSP00000400049.1:n.1611-9T>C
ENST00000533482.5:c.*1420-9T>C	ENSP00000431225.1:n.*1420-9T>C
NM_005732.3:c.1794-9T>C	NP_005723.2:n.1794-9T>C
NM_005732.4:c.1794-9T>C MANE Select	NP_005723.2:n.1794-9T>C