Canonical Allele Identifier: CA3405496

Gene: RAD50

Linked Data

• dbSNP Id: rs745590648
• ExAC: 5:131945036 A / C
• gnomAD v2: 5-131945036-A-C
• MyVariant Identifiers: chr5:g.131945036A>C (hg19) ; chr5:g.132609344A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609344A>C , CM000667.2:g.132609344A>C	GRCh38
NC_000005.9:g.131945036A>C , CM000667.1:g.131945036A>C	GRCh37
NC_000005.8:g.131972935A>C	NCBI36
NG_021151.1:g.57421A>C
NG_021151.2:g.57368A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2984A>C MANE Select	ENSP00000368100.4:p.Glu995Ala
ENST00000638452.2:c.2687A>C	ENSP00000492349.2:p.Glu896Ala
ENST00000638504.1:n.2592A>C
ENST00000638568.2:c.2687A>C	ENSP00000491158.2:p.Glu896Ala
ENST00000639899.1:n.3503A>C
ENST00000640655.2:c.2687A>C	ENSP00000491596.2:p.Glu896Ala
ENST00000651723.1:c.*3067A>C	ENSP00000498237.1:n.*3067A>C
ENST00000378823.7:c.2984A>C	ENSP00000368100.4:p.Glu995Ala
ENST00000533482.5:c.*2610A>C	ENSP00000431225.1:n.*2610A>C
NM_005732.3:c.2984A>C	NP_005723.2:p.Glu995Ala
NM_005732.4:c.2984A>C MANE Select	NP_005723.2:p.Glu995Ala