Canonical Allele Identifier: CA360946509

Gene: RAD50

Linked Data

• dbSNP Id: rs1750709019
• MyVariant Identifiers: chr5:g.131927655A>C (hg19) ; chr5:g.132591963A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591963A>C , CM000667.2:g.132591963A>C	GRCh38
NC_000005.9:g.131927655A>C , CM000667.1:g.131927655A>C	GRCh37
NC_000005.8:g.131955554A>C	NCBI36
NG_021151.1:g.40040A>C
NG_021151.2:g.39987A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1722A>C MANE Select	ENSP00000368100.4:p.Lys574Asn
ENST00000638452.2:c.1425A>C	ENSP00000492349.2:p.Lys475Asn
ENST00000638504.1:n.1408A>C
ENST00000638568.2:c.1425A>C	ENSP00000491158.2:p.Lys475Asn
ENST00000639899.1:n.2241A>C
ENST00000640655.2:c.1425A>C	ENSP00000491596.2:p.Lys475Asn
ENST00000651160.1:c.1722A>C	ENSP00000498829.1:p.Lys574Asn
ENST00000651541.1:c.1425A>C	ENSP00000498795.1:p.Lys475Asn
ENST00000651658.1:n.2149A>C
ENST00000651723.1:c.*1805A>C	ENSP00000498237.1:n.*1805A>C
ENST00000652016.1:c.1722A>C	ENSP00000498267.1:p.Lys574Asn
ENST00000652485.1:c.1755A>C	ENSP00000498973.1:p.Lys585Asn
ENST00000378823.7:c.1722A>C	ENSP00000368100.4:p.Lys574Asn
ENST00000423956.5:c.1635+557A>C	ENSP00000390971.1:n.1635+557A>C
ENST00000434288.1:c.217A>C
ENST00000453394.5:c.1539A>C	ENSP00000400049.1:p.Lys513Asn
ENST00000533482.5:c.*1348A>C	ENSP00000431225.1:n.*1348A>C
NM_005732.3:c.1722A>C	NP_005723.2:p.Lys574Asn
NM_005732.4:c.1722A>C MANE Select	NP_005723.2:p.Lys574Asn