Canonical Allele Identifier: CA127253490

Gene: RAD50

Linked Data

• dbSNP Id: rs550962305
• gnomAD v3: 5-132556965-G-A
• gnomAD v4: 5-132556965-G-A
• MyVariant Identifiers: chr5:g.131892657G>A (hg19) ; chr5:g.132556965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132556965G>A , CM000667.2:g.132556965G>A	GRCh38
NC_000005.9:g.131892657G>A , CM000667.1:g.131892657G>A	GRCh37
NC_000005.8:g.131920556G>A	NCBI36
NG_021151.1:g.5042G>A
NG_021151.2:g.4989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638452.2:c.-168-2319G>A	ENSP00000492349.2:n.-168-2319G>A
ENST00000638504.1:n.207-2319G>A
ENST00000638568.2:c.-169+492G>A	ENSP00000491158.2:n.-169+492G>A
ENST00000639899.1:n.290-2319G>A
ENST00000640655.2:c.-168-2319G>A	ENSP00000491596.2:n.-168-2319G>A
ENST00000651541.1:c.-213G>A	ENSP00000498795.1:n.-213G>A
ENST00000378823.7:c.-360G>A	ENSP00000368100.4:n.-360G>A
ENST00000416135.5:c.-169+492G>A	ENSP00000389515.1:n.-169+492G>A
ENST00000533482.5:c.-360G>A	ENSP00000431225.1:n.-360G>A
NM_005732.3:c.-360G>A	NP_005723.2:n.-360G>A