Canonical Allele Identifier: CA360956697

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940615T>C (hg19) ; chr5:g.132604923T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604923T>C , CM000667.2:g.132604923T>C	GRCh38
NC_000005.9:g.131940615T>C , CM000667.1:g.131940615T>C	GRCh37
NC_000005.8:g.131968514T>C	NCBI36
NG_021151.1:g.53000T>C
NG_021151.2:g.52947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2642T>C MANE Select	ENSP00000368100.4:p.Leu881Ser
ENST00000638452.2:c.2345T>C	ENSP00000492349.2:p.Leu782Ser
ENST00000638504.1:n.2250T>C
ENST00000638568.2:c.2345T>C	ENSP00000491158.2:p.Leu782Ser
ENST00000639899.1:n.3161T>C
ENST00000640655.2:c.2345T>C	ENSP00000491596.2:p.Leu782Ser
ENST00000651160.1:c.*786T>C	ENSP00000498829.1:n.*786T>C
ENST00000651723.1:c.*2725T>C	ENSP00000498237.1:n.*2725T>C
ENST00000652016.1:c.*859T>C	ENSP00000498267.1:n.*859T>C
ENST00000652485.1:c.2675T>C	ENSP00000498973.1:p.Leu892Ser
ENST00000378823.7:c.2642T>C	ENSP00000368100.4:p.Leu881Ser
ENST00000423956.5:c.*828T>C	ENSP00000390971.1:n.*828T>C
ENST00000533482.5:c.*2268T>C	ENSP00000431225.1:n.*2268T>C
NM_005732.3:c.2642T>C	NP_005723.2:p.Leu881Ser
NM_005732.4:c.2642T>C MANE Select	NP_005723.2:p.Leu881Ser