Canonical Allele Identifier: CA360956211

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604817-A-G
• MyVariant Identifiers: chr5:g.131940509A>G (hg19) ; chr5:g.132604817A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604817A>G , CM000667.2:g.132604817A>G	GRCh38
NC_000005.9:g.131940509A>G , CM000667.1:g.131940509A>G	GRCh37
NC_000005.8:g.131968408A>G	NCBI36
NG_021151.1:g.52894A>G
NG_021151.2:g.52841A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2536A>G MANE Select	ENSP00000368100.4:p.Ile846Val
ENST00000638452.2:c.2239A>G	ENSP00000492349.2:p.Ile747Val
ENST00000638504.1:n.2144A>G
ENST00000638568.2:c.2239A>G	ENSP00000491158.2:p.Ile747Val
ENST00000639899.1:n.3055A>G
ENST00000640655.2:c.2239A>G	ENSP00000491596.2:p.Ile747Val
ENST00000651160.1:c.*680A>G	ENSP00000498829.1:n.*680A>G
ENST00000651723.1:c.*2619A>G	ENSP00000498237.1:n.*2619A>G
ENST00000652016.1:c.*753A>G	ENSP00000498267.1:n.*753A>G
ENST00000652485.1:c.2569A>G	ENSP00000498973.1:p.Ile857Val
ENST00000378823.7:c.2536A>G	ENSP00000368100.4:p.Ile846Val
ENST00000423956.5:c.*722A>G	ENSP00000390971.1:n.*722A>G
ENST00000533482.5:c.*2162A>G	ENSP00000431225.1:n.*2162A>G
NM_005732.3:c.2536A>G	NP_005723.2:p.Ile846Val
NM_005732.4:c.2536A>G MANE Select	NP_005723.2:p.Ile846Val