Canonical Allele Identifier: CA446362058

Gene: RAD50

Linked Data

• gnomAD v4: 5-132594938-G-A
• MyVariant Identifiers: chr5:g.131930630G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594938G>A , CM000667.2:g.132594938G>A	GRCh38
NC_000005.9:g.131930630G>A , CM000667.1:g.131930630G>A	GRCh37
NC_000005.8:g.131958529G>A	NCBI36
NG_021151.1:g.43015G>A
NG_021151.2:g.42962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1863G>A MANE Select	ENSP00000368100.4:p.Gln621=
ENST00000638452.2:c.1566G>A	ENSP00000492349.2:p.Gln522=
ENST00000638504.1:n.1480-166G>A
ENST00000638568.2:c.1566G>A	ENSP00000491158.2:p.Gln522=
ENST00000639899.1:n.2382G>A
ENST00000640655.2:c.1566G>A	ENSP00000491596.2:p.Gln522=
ENST00000651160.1:c.*16-166G>A	ENSP00000498829.1:n.*16-166G>A
ENST00000651658.1:n.2406G>A
ENST00000651723.1:c.*1946G>A	ENSP00000498237.1:n.*1946G>A
ENST00000652016.1:c.*89-166G>A	ENSP00000498267.1:n.*89-166G>A
ENST00000652485.1:c.1896G>A	ENSP00000498973.1:p.Gln632=
ENST00000378823.7:c.1863G>A	ENSP00000368100.4:p.Gln621=
ENST00000423956.5:c.*49G>A	ENSP00000390971.1:n.*49G>A
ENST00000453394.5:c.1680G>A	ENSP00000400049.1:p.Gln560=
ENST00000533482.5:c.*1489G>A	ENSP00000431225.1:n.*1489G>A
NM_005732.3:c.1863G>A	NP_005723.2:p.Gln621=
NM_005732.4:c.1863G>A MANE Select	NP_005723.2:p.Gln621=