Canonical Allele Identifier: CA446361994

Gene: RAD50

Linked Data

• gnomAD v4: 5-132594902-T-C
• MyVariant Identifiers: chr5:g.131930594T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594902T>C , CM000667.2:g.132594902T>C	GRCh38
NC_000005.9:g.131930594T>C , CM000667.1:g.131930594T>C	GRCh37
NC_000005.8:g.131958493T>C	NCBI36
NG_021151.1:g.42979T>C
NG_021151.2:g.42926T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1827T>C MANE Select	ENSP00000368100.4:p.Asn609=
ENST00000638452.2:c.1530T>C	ENSP00000492349.2:p.Asn510=
ENST00000638504.1:n.1480-202T>C
ENST00000638568.2:c.1530T>C	ENSP00000491158.2:p.Asn510=
ENST00000639899.1:n.2346T>C
ENST00000640655.2:c.1530T>C	ENSP00000491596.2:p.Asn510=
ENST00000651160.1:c.*16-202T>C	ENSP00000498829.1:n.*16-202T>C
ENST00000651658.1:n.2370T>C
ENST00000651723.1:c.*1910T>C	ENSP00000498237.1:n.*1910T>C
ENST00000652016.1:c.*89-202T>C	ENSP00000498267.1:n.*89-202T>C
ENST00000652485.1:c.1860T>C	ENSP00000498973.1:p.Asn620=
ENST00000378823.7:c.1827T>C	ENSP00000368100.4:p.Asn609=
ENST00000423956.5:c.*13T>C	ENSP00000390971.1:n.*13T>C
ENST00000453394.5:c.1644T>C	ENSP00000400049.1:p.Asn548=
ENST00000533482.5:c.*1453T>C	ENSP00000431225.1:n.*1453T>C
NM_005732.3:c.1827T>C	NP_005723.2:p.Asn609=
NM_005732.4:c.1827T>C MANE Select	NP_005723.2:p.Asn609=