Canonical Allele Identifier: CA562774980

Gene: RAD50

Linked Data

• dbSNP Id: rs1292013980
• gnomAD v2: 5-131940705-T-C
• gnomAD v4: 5-132605013-T-C
• MyVariant Identifiers: chr5:g.131940705T>C (hg19) ; chr5:g.132605013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605013T>C , CM000667.2:g.132605013T>C	GRCh38
NC_000005.9:g.131940705T>C , CM000667.1:g.131940705T>C	GRCh37
NC_000005.8:g.131968604T>C	NCBI36
NG_021151.1:g.53090T>C
NG_021151.2:g.53037T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2718+14T>C MANE Select	ENSP00000368100.4:n.2718+14T>C
ENST00000638452.2:c.2421+14T>C	ENSP00000492349.2:n.2421+14T>C
ENST00000638504.1:n.2326+14T>C
ENST00000638568.2:c.2421+14T>C	ENSP00000491158.2:n.2421+14T>C
ENST00000639899.1:n.3237+14T>C
ENST00000640655.2:c.2421+14T>C	ENSP00000491596.2:n.2421+14T>C
ENST00000651160.1:c.*862+14T>C	ENSP00000498829.1:n.*862+14T>C
ENST00000651723.1:c.*2801+14T>C	ENSP00000498237.1:n.*2801+14T>C
ENST00000652016.1:c.*935+14T>C	ENSP00000498267.1:n.*935+14T>C
ENST00000378823.7:c.2718+14T>C	ENSP00000368100.4:n.2718+14T>C
ENST00000423956.5:c.*904+14T>C	ENSP00000390971.1:n.*904+14T>C
ENST00000533482.5:c.*2344+14T>C	ENSP00000431225.1:n.*2344+14T>C
NM_005732.3:c.2718+14T>C	NP_005723.2:n.2718+14T>C
NM_005732.4:c.2718+14T>C MANE Select	NP_005723.2:n.2718+14T>C