Canonical Allele Identifier: CA360959675

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131944852T>C (hg19) ; chr5:g.132609160T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609160T>C , CM000667.2:g.132609160T>C	GRCh38
NC_000005.9:g.131944852T>C , CM000667.1:g.131944852T>C	GRCh37
NC_000005.8:g.131972751T>C	NCBI36
NG_021151.1:g.57237T>C
NG_021151.2:g.57184T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2873T>C MANE Select	ENSP00000368100.4:p.Met958Thr
ENST00000638452.2:c.2576T>C	ENSP00000492349.2:p.Met859Thr
ENST00000638504.1:n.2481T>C
ENST00000638568.2:c.2576T>C	ENSP00000491158.2:p.Met859Thr
ENST00000639899.1:n.3392T>C
ENST00000640655.2:c.2576T>C	ENSP00000491596.2:p.Met859Thr
ENST00000651160.1:c.*1017T>C	ENSP00000498829.1:n.*1017T>C
ENST00000651723.1:c.*2956T>C	ENSP00000498237.1:n.*2956T>C
ENST00000378823.7:c.2873T>C	ENSP00000368100.4:p.Met958Thr
ENST00000423956.5:c.*1059T>C	ENSP00000390971.1:n.*1059T>C
ENST00000533482.5:c.*2499T>C	ENSP00000431225.1:n.*2499T>C
NM_005732.3:c.2873T>C	NP_005723.2:p.Met958Thr
NM_005732.4:c.2873T>C MANE Select	NP_005723.2:p.Met958Thr