Canonical Allele Identifier: CA127253442

Gene: RAD50

Linked Data

• dbSNP Id: rs1025681359
• gnomAD v2: 5-131892615-A-C
• gnomAD v3: 5-132556923-A-C
• gnomAD v4: 5-132556923-A-C
• MyVariant Identifiers: chr5:g.131892615A>C (hg19) ; chr5:g.132556923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556923A>C , CM000667.2:g.132556923A>C	GRCh38
NC_000005.9:g.131892615A>C , CM000667.1:g.131892615A>C	GRCh37
NC_000005.8:g.131920514A>C	NCBI36
NG_021151.1:g.5000A>C
NG_021151.2:g.4947A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2361A>C	ENSP00000492349.2:n.-168-2361A>C
ENST00000638504.1:n.207-2361A>C
ENST00000638568.2:c.-169+450A>C	ENSP00000491158.2:n.-169+450A>C
ENST00000639899.1:n.290-2361A>C
ENST00000640655.2:c.-168-2361A>C	ENSP00000491596.2:n.-168-2361A>C
ENST00000416135.5:c.-169+450A>C	ENSP00000389515.1:n.-169+450A>C