Canonical Allele Identifier: CA2578402430

Gene: RAD50

Linked Data

• gnomAD v4: 5-132557276-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557276A>C , CM000667.2:g.132557276A>C	GRCh38
NC_000005.9:g.131892968A>C , CM000667.1:g.131892968A>C	GRCh37
NC_000005.8:g.131920867A>C	NCBI36
NG_021151.1:g.5353A>C
NG_021151.2:g.5300A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-49A>C MANE Select	ENSP00000368100.4:n.-49A>C
ENST00000638452.2:c.-168-2008A>C	ENSP00000492349.2:n.-168-2008A>C
ENST00000638504.1:n.207-2008A>C
ENST00000638568.2:c.-169+803A>C	ENSP00000491158.2:n.-169+803A>C
ENST00000639899.1:n.290-2008A>C
ENST00000640655.2:c.-168-2008A>C	ENSP00000491596.2:n.-168-2008A>C
ENST00000651160.1:c.-49A>C	ENSP00000498829.1:n.-49A>C
ENST00000651541.1:c.-169+267A>C	ENSP00000498795.1:n.-169+267A>C
ENST00000651658.1:n.20A>C
ENST00000651723.1:c.-49A>C	ENSP00000498237.1:n.-49A>C
ENST00000652016.1:c.-49A>C	ENSP00000498267.1:n.-49A>C
ENST00000652485.1:c.-49A>C	ENSP00000498973.1:n.-49A>C
ENST00000378823.7:c.-49A>C	ENSP00000368100.4:n.-49A>C
ENST00000416135.5:c.-169+803A>C	ENSP00000389515.1:n.-169+803A>C
ENST00000423956.5:c.-49A>C	ENSP00000390971.1:n.-49A>C
ENST00000453394.5:c.-49A>C	ENSP00000400049.1:n.-49A>C
ENST00000533482.5:c.-49A>C	ENSP00000431225.1:n.-49A>C
NM_005732.3:c.-49A>C	NP_005723.2:n.-49A>C
NM_005732.4:c.-49A>C MANE Select	NP_005723.2:n.-49A>C