Canonical Allele Identifier: CA360956998

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940685G>T (hg19) ; chr5:g.132604993G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604993G>T , CM000667.2:g.132604993G>T	GRCh38
NC_000005.9:g.131940685G>T , CM000667.1:g.131940685G>T	GRCh37
NC_000005.8:g.131968584G>T	NCBI36
NG_021151.1:g.53070G>T
NG_021151.2:g.53017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2712G>T MANE Select	ENSP00000368100.4:p.Glu904Asp
ENST00000638452.2:c.2415G>T	ENSP00000492349.2:p.Glu805Asp
ENST00000638504.1:n.2320G>T
ENST00000638568.2:c.2415G>T	ENSP00000491158.2:p.Glu805Asp
ENST00000639899.1:n.3231G>T
ENST00000640655.2:c.2415G>T	ENSP00000491596.2:p.Glu805Asp
ENST00000651160.1:c.*856G>T	ENSP00000498829.1:n.*856G>T
ENST00000651723.1:c.*2795G>T	ENSP00000498237.1:n.*2795G>T
ENST00000652016.1:c.*929G>T	ENSP00000498267.1:n.*929G>T
ENST00000378823.7:c.2712G>T	ENSP00000368100.4:p.Glu904Asp
ENST00000423956.5:c.*898G>T	ENSP00000390971.1:n.*898G>T
ENST00000533482.5:c.*2338G>T	ENSP00000431225.1:n.*2338G>T
NM_005732.3:c.2712G>T	NP_005723.2:p.Glu904Asp
NM_005732.4:c.2712G>T MANE Select	NP_005723.2:p.Glu904Asp