Canonical Allele Identifier: CA360956953

Gene: RAD50

Linked Data

• ClinVar Variation Id: 853576
• ClinVar RCV Id: RCV001058412
• dbSNP Id: rs1750958929
• gnomAD v4: 5-132604983-T-C
• MyVariant Identifiers: chr5:g.131940675T>C (hg19) ; chr5:g.132604983T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604983T>C , CM000667.2:g.132604983T>C	GRCh38
NC_000005.9:g.131940675T>C , CM000667.1:g.131940675T>C	GRCh37
NC_000005.8:g.131968574T>C	NCBI36
NG_021151.1:g.53060T>C
NG_021151.2:g.53007T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2702T>C MANE Select	ENSP00000368100.4:p.Leu901Ser
ENST00000638452.2:c.2405T>C	ENSP00000492349.2:p.Leu802Ser
ENST00000638504.1:n.2310T>C
ENST00000638568.2:c.2405T>C	ENSP00000491158.2:p.Leu802Ser
ENST00000639899.1:n.3221T>C
ENST00000640655.2:c.2405T>C	ENSP00000491596.2:p.Leu802Ser
ENST00000651160.1:c.*846T>C	ENSP00000498829.1:n.*846T>C
ENST00000651723.1:c.*2785T>C	ENSP00000498237.1:n.*2785T>C
ENST00000652016.1:c.*919T>C	ENSP00000498267.1:n.*919T>C
ENST00000378823.7:c.2702T>C	ENSP00000368100.4:p.Leu901Ser
ENST00000423956.5:c.*888T>C	ENSP00000390971.1:n.*888T>C
ENST00000533482.5:c.*2328T>C	ENSP00000431225.1:n.*2328T>C
NM_005732.3:c.2702T>C	NP_005723.2:p.Leu901Ser
NM_005732.4:c.2702T>C MANE Select	NP_005723.2:p.Leu901Ser