Canonical Allele Identifier: CA360959564

Gene: RAD50

Linked Data

• ClinVar Variation Id: 821917
• ClinVar RCV Id: RCV001016814
• dbSNP Id: rs1581004633
• MyVariant Identifiers: chr5:g.131944840T>C (hg19) ; chr5:g.132609148T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609148T>C , CM000667.2:g.132609148T>C	GRCh38
NC_000005.9:g.131944840T>C , CM000667.1:g.131944840T>C	GRCh37
NC_000005.8:g.131972739T>C	NCBI36
NG_021151.1:g.57225T>C
NG_021151.2:g.57172T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2861T>C MANE Select	ENSP00000368100.4:p.Ile954Thr
ENST00000638452.2:c.2564T>C	ENSP00000492349.2:p.Ile855Thr
ENST00000638504.1:n.2469T>C
ENST00000638568.2:c.2564T>C	ENSP00000491158.2:p.Ile855Thr
ENST00000639899.1:n.3380T>C
ENST00000640655.2:c.2564T>C	ENSP00000491596.2:p.Ile855Thr
ENST00000651160.1:c.*1005T>C	ENSP00000498829.1:n.*1005T>C
ENST00000651723.1:c.*2944T>C	ENSP00000498237.1:n.*2944T>C
ENST00000378823.7:c.2861T>C	ENSP00000368100.4:p.Ile954Thr
ENST00000423956.5:c.*1047T>C	ENSP00000390971.1:n.*1047T>C
ENST00000533482.5:c.*2487T>C	ENSP00000431225.1:n.*2487T>C
NM_005732.3:c.2861T>C	NP_005723.2:p.Ile954Thr
NM_005732.4:c.2861T>C MANE Select	NP_005723.2:p.Ile954Thr