Canonical Allele Identifier: CA360949325

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457394
• ClinVar RCV Id: RCV000536817
• dbSNP Id: rs1554098670
• gnomAD v3: 5-132595607-G-C
• gnomAD v4: 5-132595607-G-C
• MyVariant Identifiers: chr5:g.131931299G>C (hg19) ; chr5:g.132595607G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595607G>C , CM000667.2:g.132595607G>C	GRCh38
NC_000005.9:g.131931299G>C , CM000667.1:g.131931299G>C	GRCh37
NC_000005.8:g.131959198G>C	NCBI36
NG_021151.1:g.43684G>C
NG_021151.2:g.43631G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2004G>C MANE Select	ENSP00000368100.4:p.Gln668His
ENST00000638452.2:c.1707G>C	ENSP00000492349.2:p.Gln569His
ENST00000638504.1:n.1612G>C
ENST00000638568.2:c.1707G>C	ENSP00000491158.2:p.Gln569His
ENST00000639899.1:n.2523G>C
ENST00000640655.2:c.1707G>C	ENSP00000491596.2:p.Gln569His
ENST00000651160.1:c.*148G>C	ENSP00000498829.1:n.*148G>C
ENST00000651658.1:n.2547G>C
ENST00000651723.1:c.*2087G>C	ENSP00000498237.1:n.*2087G>C
ENST00000652016.1:c.*221G>C	ENSP00000498267.1:n.*221G>C
ENST00000652485.1:c.2037G>C	ENSP00000498973.1:p.Gln679His
ENST00000378823.7:c.2004G>C	ENSP00000368100.4:p.Gln668His
ENST00000423956.5:c.*190G>C	ENSP00000390971.1:n.*190G>C
ENST00000453394.5:c.1821G>C	ENSP00000400049.1:p.Gln607His
ENST00000496204.1:n.87G>C
ENST00000533482.5:c.*1630G>C	ENSP00000431225.1:n.*1630G>C
NM_005732.3:c.2004G>C	NP_005723.2:p.Gln668His
NM_005732.4:c.2004G>C MANE Select	NP_005723.2:p.Gln668His