Canonical Allele Identifier: CA360956839

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940648T>G (hg19) ; chr5:g.132604956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604956T>G , CM000667.2:g.132604956T>G	GRCh38
NC_000005.9:g.131940648T>G , CM000667.1:g.131940648T>G	GRCh37
NC_000005.8:g.131968547T>G	NCBI36
NG_021151.1:g.53033T>G
NG_021151.2:g.52980T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2675T>G MANE Select	ENSP00000368100.4:p.Val892Gly
ENST00000638452.2:c.2378T>G	ENSP00000492349.2:p.Val793Gly
ENST00000638504.1:n.2283T>G
ENST00000638568.2:c.2378T>G	ENSP00000491158.2:p.Val793Gly
ENST00000639899.1:n.3194T>G
ENST00000640655.2:c.2378T>G	ENSP00000491596.2:p.Val793Gly
ENST00000651160.1:c.*819T>G	ENSP00000498829.1:n.*819T>G
ENST00000651723.1:c.*2758T>G	ENSP00000498237.1:n.*2758T>G
ENST00000652016.1:c.*892T>G	ENSP00000498267.1:n.*892T>G
ENST00000378823.7:c.2675T>G	ENSP00000368100.4:p.Val892Gly
ENST00000423956.5:c.*861T>G	ENSP00000390971.1:n.*861T>G
ENST00000533482.5:c.*2301T>G	ENSP00000431225.1:n.*2301T>G
NM_005732.3:c.2675T>G	NP_005723.2:p.Val892Gly
NM_005732.4:c.2675T>G MANE Select	NP_005723.2:p.Val892Gly