Canonical Allele Identifier: CA804005568

Gene: RAD50

Linked Data

• dbSNP Id: rs1172374954
• gnomAD v3: 5-132557053-G-C
• gnomAD v4: 5-132557053-G-C
• MyVariant Identifiers: chr5:g.131892745G>C (hg19) ; chr5:g.132557053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557053G>C , CM000667.2:g.132557053G>C	GRCh38
NC_000005.9:g.131892745G>C , CM000667.1:g.131892745G>C	GRCh37
NC_000005.8:g.131920644G>C	NCBI36
NG_021151.1:g.5130G>C
NG_021151.2:g.5077G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.-272G>C MANE Select	ENSP00000368100.4:n.-272G>C
ENST00000638452.2:c.-168-2231G>C	ENSP00000492349.2:n.-168-2231G>C
ENST00000638504.1:n.207-2231G>C
ENST00000638568.2:c.-169+580G>C	ENSP00000491158.2:n.-169+580G>C
ENST00000639899.1:n.290-2231G>C
ENST00000640655.2:c.-168-2231G>C	ENSP00000491596.2:n.-168-2231G>C
ENST00000651160.1:c.-272G>C	ENSP00000498829.1:n.-272G>C
ENST00000651541.1:c.-169+44G>C	ENSP00000498795.1:n.-169+44G>C
ENST00000652016.1:c.-272G>C	ENSP00000498267.1:n.-272G>C
ENST00000652485.1:c.-272G>C	ENSP00000498973.1:n.-272G>C
ENST00000378823.7:c.-272G>C	ENSP00000368100.4:n.-272G>C
ENST00000416135.5:c.-169+580G>C	ENSP00000389515.1:n.-169+580G>C
ENST00000533482.5:c.-272G>C	ENSP00000431225.1:n.-272G>C
NM_005732.3:c.-272G>C	NP_005723.2:n.-272G>C
NM_005732.4:c.-272G>C MANE Select	NP_005723.2:n.-272G>C