Canonical Allele Identifier: CA127253917

Gene: RAD50

Linked Data

• dbSNP Id: rs1017168426
• gnomAD v3: 5-132557202-C-T
• gnomAD v4: 5-132557202-C-T
• MyVariant Identifiers: chr5:g.131892894C>T (hg19) ; chr5:g.132557202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557202C>T , CM000667.2:g.132557202C>T	GRCh38
NC_000005.9:g.131892894C>T , CM000667.1:g.131892894C>T	GRCh37
NC_000005.8:g.131920793C>T	NCBI36
NG_021151.1:g.5279C>T
NG_021151.2:g.5226C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.-123C>T MANE Select	ENSP00000368100.4:n.-123C>T
ENST00000638452.2:c.-168-2082C>T	ENSP00000492349.2:n.-168-2082C>T
ENST00000638504.1:n.207-2082C>T
ENST00000638568.2:c.-169+729C>T	ENSP00000491158.2:n.-169+729C>T
ENST00000639899.1:n.290-2082C>T
ENST00000640655.2:c.-168-2082C>T	ENSP00000491596.2:n.-168-2082C>T
ENST00000651160.1:c.-123C>T	ENSP00000498829.1:n.-123C>T
ENST00000651541.1:c.-169+193C>T	ENSP00000498795.1:n.-169+193C>T
ENST00000651723.1:c.-123C>T	ENSP00000498237.1:n.-123C>T
ENST00000652016.1:c.-123C>T	ENSP00000498267.1:n.-123C>T
ENST00000652485.1:c.-123C>T	ENSP00000498973.1:n.-123C>T
ENST00000378823.7:c.-123C>T	ENSP00000368100.4:n.-123C>T
ENST00000416135.5:c.-169+729C>T	ENSP00000389515.1:n.-169+729C>T
ENST00000533482.5:c.-123C>T	ENSP00000431225.1:n.-123C>T
NM_005732.3:c.-123C>T	NP_005723.2:n.-123C>T
NM_005732.4:c.-123C>T MANE Select	NP_005723.2:n.-123C>T