Canonical Allele Identifier: CA804005357

Gene: RAD50

Linked Data

• dbSNP Id: rs1200004178
• gnomAD v3: 5-132556976-C-T
• gnomAD v4: 5-132556976-C-T
• MyVariant Identifiers: chr5:g.131892668C>T (hg19) ; chr5:g.132556976C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556976C>T , CM000667.2:g.132556976C>T	GRCh38
NC_000005.9:g.131892668C>T , CM000667.1:g.131892668C>T	GRCh37
NC_000005.8:g.131920567C>T	NCBI36
NG_021151.1:g.5053C>T
NG_021151.2:g.5000C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2308C>T	ENSP00000492349.2:n.-168-2308C>T
ENST00000638504.1:n.207-2308C>T
ENST00000638568.2:c.-169+503C>T	ENSP00000491158.2:n.-169+503C>T
ENST00000639899.1:n.290-2308C>T
ENST00000640655.2:c.-168-2308C>T	ENSP00000491596.2:n.-168-2308C>T
ENST00000651541.1:c.-202C>T	ENSP00000498795.1:n.-202C>T
ENST00000378823.7:c.-349C>T	ENSP00000368100.4:n.-349C>T
ENST00000416135.5:c.-169+503C>T	ENSP00000389515.1:n.-169+503C>T
ENST00000533482.5:c.-349C>T	ENSP00000431225.1:n.-349C>T
NM_005732.3:c.-349C>T	NP_005723.2:n.-349C>T