Canonical Allele Identifier: CA127253426

Gene: RAD50

Linked Data

• dbSNP Id: rs976687733
• gnomAD v3: 5-132556913-C-A
• gnomAD v4: 5-132556913-C-A
• MyVariant Identifiers: chr5:g.131892605C>A (hg19) ; chr5:g.132556913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556913C>A , CM000667.2:g.132556913C>A	GRCh38
NC_000005.9:g.131892605C>A , CM000667.1:g.131892605C>A	GRCh37
NC_000005.8:g.131920504C>A	NCBI36
NG_021151.1:g.4990C>A
NG_021151.2:g.4937C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2371C>A	ENSP00000492349.2:n.-168-2371C>A
ENST00000638504.1:n.207-2371C>A
ENST00000638568.2:c.-169+440C>A	ENSP00000491158.2:n.-169+440C>A
ENST00000639899.1:n.290-2371C>A
ENST00000640655.2:c.-168-2371C>A	ENSP00000491596.2:n.-168-2371C>A
ENST00000416135.5:c.-169+440C>A	ENSP00000389515.1:n.-169+440C>A