Canonical Allele Identifier: CA127253639

Gene: RAD50

Linked Data

• dbSNP Id: rs990729162
• gnomAD v4: 5-132557027-G-T
• MyVariant Identifiers: chr5:g.131892719G>T (hg19) ; chr5:g.132557027G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557027G>T , CM000667.2:g.132557027G>T	GRCh38
NC_000005.9:g.131892719G>T , CM000667.1:g.131892719G>T	GRCh37
NC_000005.8:g.131920618G>T	NCBI36
NG_021151.1:g.5104G>T
NG_021151.2:g.5051G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-298G>T MANE Select	ENSP00000368100.4:n.-298G>T
ENST00000638452.2:c.-168-2257G>T	ENSP00000492349.2:n.-168-2257G>T
ENST00000638504.1:n.207-2257G>T
ENST00000638568.2:c.-169+554G>T	ENSP00000491158.2:n.-169+554G>T
ENST00000639899.1:n.290-2257G>T
ENST00000640655.2:c.-168-2257G>T	ENSP00000491596.2:n.-168-2257G>T
ENST00000651160.1:c.-298G>T	ENSP00000498829.1:n.-298G>T
ENST00000651541.1:c.-169+18G>T	ENSP00000498795.1:n.-169+18G>T
ENST00000652016.1:c.-298G>T	ENSP00000498267.1:n.-298G>T
ENST00000652485.1:c.-298G>T	ENSP00000498973.1:n.-298G>T
ENST00000378823.7:c.-298G>T	ENSP00000368100.4:n.-298G>T
ENST00000416135.5:c.-169+554G>T	ENSP00000389515.1:n.-169+554G>T
ENST00000533482.5:c.-298G>T	ENSP00000431225.1:n.-298G>T
NM_005732.3:c.-298G>T	NP_005723.2:n.-298G>T
NM_005732.4:c.-298G>T MANE Select	NP_005723.2:n.-298G>T