Canonical Allele Identifier: CA804005514

Gene: RAD50

Linked Data

• dbSNP Id: rs1003263940
• gnomAD v4: 5-132557017-C-G
• MyVariant Identifiers: chr5:g.131892709C>G (hg19) ; chr5:g.132557017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557017C>G , CM000667.2:g.132557017C>G	GRCh38
NC_000005.9:g.131892709C>G , CM000667.1:g.131892709C>G	GRCh37
NC_000005.8:g.131920608C>G	NCBI36
NG_021151.1:g.5094C>G
NG_021151.2:g.5041C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-308C>G MANE Select	ENSP00000368100.4:n.-308C>G
ENST00000638452.2:c.-168-2267C>G	ENSP00000492349.2:n.-168-2267C>G
ENST00000638504.1:n.207-2267C>G
ENST00000638568.2:c.-169+544C>G	ENSP00000491158.2:n.-169+544C>G
ENST00000639899.1:n.290-2267C>G
ENST00000640655.2:c.-168-2267C>G	ENSP00000491596.2:n.-168-2267C>G
ENST00000651160.1:c.-308C>G	ENSP00000498829.1:n.-308C>G
ENST00000651541.1:c.-169+8C>G	ENSP00000498795.1:n.-169+8C>G
ENST00000652016.1:c.-308C>G	ENSP00000498267.1:n.-308C>G
ENST00000652485.1:c.-308C>G	ENSP00000498973.1:n.-308C>G
ENST00000378823.7:c.-308C>G	ENSP00000368100.4:n.-308C>G
ENST00000416135.5:c.-169+544C>G	ENSP00000389515.1:n.-169+544C>G
ENST00000533482.5:c.-308C>G	ENSP00000431225.1:n.-308C>G
NM_005732.3:c.-308C>G	NP_005723.2:n.-308C>G
NM_005732.4:c.-308C>G MANE Select	NP_005723.2:n.-308C>G