Canonical Allele Identifier: CA331875

Gene: RAD50

Linked Data

• ClinVar Variation Id: 128008
• ClinVar RCV Id: RCV000115944 ; RCV000212919 ; RCV000515220 ; RCV002469013 ; RCV003997299
• dbSNP Id: rs138749920
• ExAC: 5:131940620 C / T
• gnomAD v2: 5-131940620-C-T
• gnomAD v3: 5-132604928-C-T
• gnomAD v4: 5-132604928-C-T
• MyVariant Identifiers: chr5:g.131940620C>T (hg19) ; chr5:g.132604928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604928C>T , CM000667.2:g.132604928C>T	GRCh38
NC_000005.9:g.131940620C>T , CM000667.1:g.131940620C>T	GRCh37
NC_000005.8:g.131968519C>T	NCBI36
NG_021151.1:g.53005C>T
NG_021151.2:g.52952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2647C>T MANE Select	ENSP00000368100.4:p.Arg883Cys
ENST00000638452.2:c.2350C>T	ENSP00000492349.2:p.Arg784Cys
ENST00000638504.1:n.2255C>T
ENST00000638568.2:c.2350C>T	ENSP00000491158.2:p.Arg784Cys
ENST00000639899.1:n.3166C>T
ENST00000640655.2:c.2350C>T	ENSP00000491596.2:p.Arg784Cys
ENST00000651160.1:c.*791C>T	ENSP00000498829.1:n.*791C>T
ENST00000651723.1:c.*2730C>T	ENSP00000498237.1:n.*2730C>T
ENST00000652016.1:c.*864C>T	ENSP00000498267.1:n.*864C>T
ENST00000652485.1:c.2680C>T	ENSP00000498973.1:p.Arg894Cys
ENST00000378823.7:c.2647C>T	ENSP00000368100.4:p.Arg883Cys
ENST00000423956.5:c.*833C>T	ENSP00000390971.1:n.*833C>T
ENST00000533482.5:c.*2273C>T	ENSP00000431225.1:n.*2273C>T
NM_005732.3:c.2647C>T	NP_005723.2:p.Arg883Cys
NM_005732.4:c.2647C>T MANE Select	NP_005723.2:p.Arg883Cys