Canonical Allele Identifier: CA562772513

Gene: RAD50

Linked Data

• dbSNP Id: rs1339822587
• gnomAD v2: 5-131892651-G-C
• gnomAD v3: 5-132556959-G-C
• gnomAD v4: 5-132556959-G-C
• MyVariant Identifiers: chr5:g.131892651G>C (hg19) ; chr5:g.132556959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556959G>C , CM000667.2:g.132556959G>C	GRCh38
NC_000005.9:g.131892651G>C , CM000667.1:g.131892651G>C	GRCh37
NC_000005.8:g.131920550G>C	NCBI36
NG_021151.1:g.5036G>C
NG_021151.2:g.4983G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2325G>C	ENSP00000492349.2:n.-168-2325G>C
ENST00000638504.1:n.207-2325G>C
ENST00000638568.2:c.-169+486G>C	ENSP00000491158.2:n.-169+486G>C
ENST00000639899.1:n.290-2325G>C
ENST00000640655.2:c.-168-2325G>C	ENSP00000491596.2:n.-168-2325G>C
ENST00000651541.1:c.-219G>C	ENSP00000498795.1:n.-219G>C
ENST00000378823.7:c.-366G>C	ENSP00000368100.4:n.-366G>C
ENST00000416135.5:c.-169+486G>C	ENSP00000389515.1:n.-169+486G>C
ENST00000533482.5:c.-366G>C	ENSP00000431225.1:n.-366G>C
NM_005732.3:c.-366G>C	NP_005723.2:n.-366G>C