Canonical Allele Identifier: CA360964227

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953776T>C (hg19) ; chr5:g.132618084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618084T>C , CM000667.2:g.132618084T>C	GRCh38
NC_000005.9:g.131953776T>C , CM000667.1:g.131953776T>C	GRCh37
NC_000005.8:g.131981675T>C	NCBI36
NG_021151.1:g.66161T>C
NG_021151.2:g.66108T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3179T>C MANE Select	ENSP00000368100.4:p.Leu1060Ser
ENST00000638452.2:c.2882T>C	ENSP00000492349.2:p.Leu961Ser
ENST00000638504.1:n.2787T>C
ENST00000638568.2:c.2882T>C	ENSP00000491158.2:p.Leu961Ser
ENST00000639899.1:n.3698T>C
ENST00000640655.2:c.2882T>C	ENSP00000491596.2:p.Leu961Ser
ENST00000651249.1:c.15T>C
ENST00000378823.7:c.3179T>C	ENSP00000368100.4:p.Leu1060Ser
ENST00000533482.5:c.*2805T>C	ENSP00000431225.1:n.*2805T>C
NM_005732.3:c.3179T>C	NP_005723.2:p.Leu1060Ser
NM_005732.4:c.3179T>C MANE Select	NP_005723.2:p.Leu1060Ser