Canonical Allele Identifier: CA360947366

Gene: RAD50

Linked Data

• dbSNP Id: rs1580996365
• MyVariant Identifiers: chr5:g.131930565G>C (hg19) ; chr5:g.132594873G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594873G>C , CM000667.2:g.132594873G>C	GRCh38
NC_000005.9:g.131930565G>C , CM000667.1:g.131930565G>C	GRCh37
NC_000005.8:g.131958464G>C	NCBI36
NG_021151.1:g.42950G>C
NG_021151.2:g.42897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1798G>C MANE Select	ENSP00000368100.4:p.Glu600Gln
ENST00000638452.2:c.1501G>C	ENSP00000492349.2:p.Glu501Gln
ENST00000638504.1:n.1480-231G>C
ENST00000638568.2:c.1501G>C	ENSP00000491158.2:p.Glu501Gln
ENST00000639899.1:n.2317G>C
ENST00000640655.2:c.1501G>C	ENSP00000491596.2:p.Glu501Gln
ENST00000651160.1:c.*16-231G>C	ENSP00000498829.1:n.*16-231G>C
ENST00000651658.1:n.2341G>C
ENST00000651723.1:c.*1881G>C	ENSP00000498237.1:n.*1881G>C
ENST00000652016.1:c.*88+196G>C	ENSP00000498267.1:n.*88+196G>C
ENST00000652485.1:c.1831G>C	ENSP00000498973.1:p.Glu611Gln
ENST00000378823.7:c.1798G>C	ENSP00000368100.4:p.Glu600Gln
ENST00000423956.5:c.1640G>C	ENSP00000390971.1:p.Gly547Ala
ENST00000453394.5:c.1615G>C	ENSP00000400049.1:p.Glu539Gln
ENST00000533482.5:c.*1424G>C	ENSP00000431225.1:n.*1424G>C
NM_005732.3:c.1798G>C	NP_005723.2:p.Glu600Gln
NM_005732.4:c.1798G>C MANE Select	NP_005723.2:p.Glu600Gln