Canonical Allele Identifier: CA804005388

Gene: RAD50

Linked Data

• dbSNP Id: rs1327448209
• gnomAD v3: 5-132556985-C-T
• gnomAD v4: 5-132556985-C-T
• MyVariant Identifiers: chr5:g.131892677C>T (hg19) ; chr5:g.132556985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556985C>T , CM000667.2:g.132556985C>T	GRCh38
NC_000005.9:g.131892677C>T , CM000667.1:g.131892677C>T	GRCh37
NC_000005.8:g.131920576C>T	NCBI36
NG_021151.1:g.5062C>T
NG_021151.2:g.5009C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-340C>T MANE Select	ENSP00000368100.4:n.-340C>T
ENST00000638452.2:c.-168-2299C>T	ENSP00000492349.2:n.-168-2299C>T
ENST00000638504.1:n.207-2299C>T
ENST00000638568.2:c.-169+512C>T	ENSP00000491158.2:n.-169+512C>T
ENST00000639899.1:n.290-2299C>T
ENST00000640655.2:c.-168-2299C>T	ENSP00000491596.2:n.-168-2299C>T
ENST00000651160.1:c.-340C>T	ENSP00000498829.1:n.-340C>T
ENST00000651541.1:c.-193C>T	ENSP00000498795.1:n.-193C>T
ENST00000652016.1:c.-340C>T	ENSP00000498267.1:n.-340C>T
ENST00000652485.1:c.-340C>T	ENSP00000498973.1:n.-340C>T
ENST00000378823.7:c.-340C>T	ENSP00000368100.4:n.-340C>T
ENST00000416135.5:c.-169+512C>T	ENSP00000389515.1:n.-169+512C>T
ENST00000533482.5:c.-340C>T	ENSP00000431225.1:n.-340C>T
NM_005732.3:c.-340C>T	NP_005723.2:n.-340C>T
NM_005732.4:c.-340C>T MANE Select	NP_005723.2:n.-340C>T