Canonical Allele Identifier: CA360946531

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131927664A>C (hg19) ; chr5:g.132591972A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591972A>C , CM000667.2:g.132591972A>C	GRCh38
NC_000005.9:g.131927664A>C , CM000667.1:g.131927664A>C	GRCh37
NC_000005.8:g.131955563A>C	NCBI36
NG_021151.1:g.40049A>C
NG_021151.2:g.39996A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.1731A>C MANE Select	ENSP00000368100.4:p.Glu577Asp
ENST00000638452.2:c.1434A>C	ENSP00000492349.2:p.Glu478Asp
ENST00000638504.1:n.1417A>C
ENST00000638568.2:c.1434A>C	ENSP00000491158.2:p.Glu478Asp
ENST00000639899.1:n.2250A>C
ENST00000640655.2:c.1434A>C	ENSP00000491596.2:p.Glu478Asp
ENST00000651160.1:c.1731A>C	ENSP00000498829.1:p.Glu577Asp
ENST00000651541.1:c.1434A>C	ENSP00000498795.1:p.Glu478Asp
ENST00000651658.1:n.2158A>C
ENST00000651723.1:c.*1814A>C	ENSP00000498237.1:n.*1814A>C
ENST00000652016.1:c.1731A>C	ENSP00000498267.1:p.Glu577Asp
ENST00000652485.1:c.1764A>C	ENSP00000498973.1:p.Glu588Asp
ENST00000378823.7:c.1731A>C	ENSP00000368100.4:p.Glu577Asp
ENST00000423956.5:c.1635+566A>C	ENSP00000390971.1:n.1635+566A>C
ENST00000434288.1:c.226A>C
ENST00000453394.5:c.1548A>C	ENSP00000400049.1:p.Glu516Asp
ENST00000533482.5:c.*1357A>C	ENSP00000431225.1:n.*1357A>C
NM_005732.3:c.1731A>C	NP_005723.2:p.Glu577Asp
NM_005732.4:c.1731A>C MANE Select	NP_005723.2:p.Glu577Asp