Canonical Allele Identifier: CA804005368

Gene: RAD50

Linked Data

• dbSNP Id: rs1479843895
• gnomAD v4: 5-132556977-A-C
• MyVariant Identifiers: chr5:g.131892669A>C (hg19) ; chr5:g.132556977A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556977A>C , CM000667.2:g.132556977A>C	GRCh38
NC_000005.9:g.131892669A>C , CM000667.1:g.131892669A>C	GRCh37
NC_000005.8:g.131920568A>C	NCBI36
NG_021151.1:g.5054A>C
NG_021151.2:g.5001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-348A>C MANE Select	ENSP00000368100.4:n.-348A>C
ENST00000638452.2:c.-168-2307A>C	ENSP00000492349.2:n.-168-2307A>C
ENST00000638504.1:n.207-2307A>C
ENST00000638568.2:c.-169+504A>C	ENSP00000491158.2:n.-169+504A>C
ENST00000639899.1:n.290-2307A>C
ENST00000640655.2:c.-168-2307A>C	ENSP00000491596.2:n.-168-2307A>C
ENST00000651541.1:c.-201A>C	ENSP00000498795.1:n.-201A>C
ENST00000378823.7:c.-348A>C	ENSP00000368100.4:n.-348A>C
ENST00000416135.5:c.-169+504A>C	ENSP00000389515.1:n.-169+504A>C
ENST00000533482.5:c.-348A>C	ENSP00000431225.1:n.-348A>C
NM_005732.3:c.-348A>C	NP_005723.2:n.-348A>C
NM_005732.4:c.-348A>C MANE Select	NP_005723.2:n.-348A>C