Canonical Allele Identifier: CA360956996

Gene: RAD50

Linked Data

• dbSNP Id: rs1180904911
• gnomAD v2: 5-131940684-A-G
• gnomAD v4: 5-132604992-A-G
• MyVariant Identifiers: chr5:g.131940684A>G (hg19) ; chr5:g.132604992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604992A>G , CM000667.2:g.132604992A>G	GRCh38
NC_000005.9:g.131940684A>G , CM000667.1:g.131940684A>G	GRCh37
NC_000005.8:g.131968583A>G	NCBI36
NG_021151.1:g.53069A>G
NG_021151.2:g.53016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2711A>G MANE Select	ENSP00000368100.4:p.Glu904Gly
ENST00000638452.2:c.2414A>G	ENSP00000492349.2:p.Glu805Gly
ENST00000638504.1:n.2319A>G
ENST00000638568.2:c.2414A>G	ENSP00000491158.2:p.Glu805Gly
ENST00000639899.1:n.3230A>G
ENST00000640655.2:c.2414A>G	ENSP00000491596.2:p.Glu805Gly
ENST00000651160.1:c.*855A>G	ENSP00000498829.1:n.*855A>G
ENST00000651723.1:c.*2794A>G	ENSP00000498237.1:n.*2794A>G
ENST00000652016.1:c.*928A>G	ENSP00000498267.1:n.*928A>G
ENST00000378823.7:c.2711A>G	ENSP00000368100.4:p.Glu904Gly
ENST00000423956.5:c.*897A>G	ENSP00000390971.1:n.*897A>G
ENST00000533482.5:c.*2337A>G	ENSP00000431225.1:n.*2337A>G
NM_005732.3:c.2711A>G	NP_005723.2:p.Glu904Gly
NM_005732.4:c.2711A>G MANE Select	NP_005723.2:p.Glu904Gly