Canonical Allele Identifier: CA127253549

Gene: RAD50

Linked Data

• dbSNP Id: rs1007082453
• gnomAD v2: 5-131892678-G-A
• gnomAD v3: 5-132556986-G-A
• gnomAD v4: 5-132556986-G-A
• MyVariant Identifiers: chr5:g.131892678G>A (hg19) ; chr5:g.132556986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556986G>A , CM000667.2:g.132556986G>A	GRCh38
NC_000005.9:g.131892678G>A , CM000667.1:g.131892678G>A	GRCh37
NC_000005.8:g.131920577G>A	NCBI36
NG_021151.1:g.5063G>A
NG_021151.2:g.5010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-339G>A MANE Select	ENSP00000368100.4:n.-339G>A
ENST00000638452.2:c.-168-2298G>A	ENSP00000492349.2:n.-168-2298G>A
ENST00000638504.1:n.207-2298G>A
ENST00000638568.2:c.-169+513G>A	ENSP00000491158.2:n.-169+513G>A
ENST00000639899.1:n.290-2298G>A
ENST00000640655.2:c.-168-2298G>A	ENSP00000491596.2:n.-168-2298G>A
ENST00000651160.1:c.-339G>A	ENSP00000498829.1:n.-339G>A
ENST00000651541.1:c.-192G>A	ENSP00000498795.1:n.-192G>A
ENST00000652016.1:c.-339G>A	ENSP00000498267.1:n.-339G>A
ENST00000652485.1:c.-339G>A	ENSP00000498973.1:n.-339G>A
ENST00000378823.7:c.-339G>A	ENSP00000368100.4:n.-339G>A
ENST00000416135.5:c.-169+513G>A	ENSP00000389515.1:n.-169+513G>A
ENST00000533482.5:c.-339G>A	ENSP00000431225.1:n.-339G>A
NM_005732.3:c.-339G>A	NP_005723.2:n.-339G>A
NM_005732.4:c.-339G>A MANE Select	NP_005723.2:n.-339G>A