Canonical Allele Identifier: CA1583238905

Gene: RAD50

Linked Data

• dbSNP Id: rs1750660244
• gnomAD v4: 5-132589613-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589613C>G , CM000667.2:g.132589613C>G	GRCh38
NC_000005.9:g.131925305C>G , CM000667.1:g.131925305C>G	GRCh37
NC_000005.8:g.131953204C>G	NCBI36
NG_021151.1:g.37690C>G
NG_021151.2:g.37637C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1246-18C>G MANE Select	ENSP00000368100.4:n.1246-18C>G
ENST00000638452.2:c.949-18C>G	ENSP00000492349.2:n.949-18C>G
ENST00000638504.1:n.932-18C>G
ENST00000638568.2:c.949-18C>G	ENSP00000491158.2:n.949-18C>G
ENST00000639899.1:n.1765-18C>G
ENST00000640655.2:c.949-18C>G	ENSP00000491596.2:n.949-18C>G
ENST00000651160.1:c.1246-18C>G	ENSP00000498829.1:n.1246-18C>G
ENST00000651541.1:c.949-18C>G	ENSP00000498795.1:n.949-18C>G
ENST00000651658.1:n.1673-18C>G
ENST00000651723.1:c.*1329-18C>G	ENSP00000498237.1:n.*1329-18C>G
ENST00000652016.1:c.1246-18C>G	ENSP00000498267.1:n.1246-18C>G
ENST00000652485.1:c.1246-18C>G	ENSP00000498973.1:n.1246-18C>G
ENST00000378823.7:c.1246-18C>G	ENSP00000368100.4:n.1246-18C>G
ENST00000423956.5:c.1246-18C>G	ENSP00000390971.1:n.1246-18C>G
ENST00000453394.5:c.1246-18C>G	ENSP00000400049.1:n.1246-18C>G
ENST00000533482.5:c.*872-18C>G	ENSP00000431225.1:n.*872-18C>G
NM_005732.3:c.1246-18C>G	NP_005723.2:n.1246-18C>G
NM_005732.4:c.1246-18C>G MANE Select	NP_005723.2:n.1246-18C>G