Canonical Allele Identifier: CA446364151

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940653T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604961T>C , CM000667.2:g.132604961T>C	GRCh38
NC_000005.9:g.131940653T>C , CM000667.1:g.131940653T>C	GRCh37
NC_000005.8:g.131968552T>C	NCBI36
NG_021151.1:g.53038T>C
NG_021151.2:g.52985T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2680T>C MANE Select	ENSP00000368100.4:p.Leu894=
ENST00000638452.2:c.2383T>C	ENSP00000492349.2:p.Leu795=
ENST00000638504.1:n.2288T>C
ENST00000638568.2:c.2383T>C	ENSP00000491158.2:p.Leu795=
ENST00000639899.1:n.3199T>C
ENST00000640655.2:c.2383T>C	ENSP00000491596.2:p.Leu795=
ENST00000651160.1:c.*824T>C	ENSP00000498829.1:n.*824T>C
ENST00000651723.1:c.*2763T>C	ENSP00000498237.1:n.*2763T>C
ENST00000652016.1:c.*897T>C	ENSP00000498267.1:n.*897T>C
ENST00000378823.7:c.2680T>C	ENSP00000368100.4:p.Leu894=
ENST00000423956.5:c.*866T>C	ENSP00000390971.1:n.*866T>C
ENST00000533482.5:c.*2306T>C	ENSP00000431225.1:n.*2306T>C
NM_005732.3:c.2680T>C	NP_005723.2:p.Leu894=
NM_005732.4:c.2680T>C MANE Select	NP_005723.2:p.Leu894=