Canonical Allele Identifier: CA191763

Gene: RAD50

Linked Data

• ClinVar Variation Id: 185377
• ClinVar RCV Id: RCV000164786
• dbSNP Id: rs587782384
• MyVariant Identifiers: chr5:g.131915009G>A (hg19) ; chr5:g.132579317G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579317G>A , CM000667.2:g.132579317G>A	GRCh38
NC_000005.9:g.131915009G>A , CM000667.1:g.131915009G>A	GRCh37
NC_000005.8:g.131942908G>A	NCBI36
NG_021151.1:g.27394G>A
NG_021151.2:g.27341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.366G>A MANE Select	ENSP00000368100.4:p.Lys122=
ENST00000638452.2:c.69G>A	ENSP00000492349.2:p.Lys23=
ENST00000638504.1:n.442+3389G>A
ENST00000638568.2:c.69G>A	ENSP00000491158.2:p.Lys23=
ENST00000639899.1:n.526G>A
ENST00000640655.2:c.69G>A	ENSP00000491596.2:p.Lys23=
ENST00000651160.1:c.366G>A	ENSP00000498829.1:p.Lys122=
ENST00000651541.1:c.69G>A	ENSP00000498795.1:p.Lys23=
ENST00000651658.1:n.434G>A
ENST00000651723.1:c.*449G>A	ENSP00000498237.1:n.*449G>A
ENST00000652016.1:c.366G>A	ENSP00000498267.1:p.Lys122=
ENST00000652485.1:c.366G>A	ENSP00000498973.1:p.Lys122=
ENST00000378823.7:c.366G>A	ENSP00000368100.4:p.Lys122=
ENST00000416135.5:c.69G>A	ENSP00000389515.1:p.Lys23=
ENST00000423956.5:c.366G>A	ENSP00000390971.1:p.Lys122=
ENST00000453394.5:c.366G>A	ENSP00000400049.1:p.Lys122=
ENST00000533482.5:c.301G>A	ENSP00000431225.1:p.Ala101Thr
NM_005732.3:c.366G>A	NP_005723.2:p.Lys122=
NM_005732.4:c.366G>A MANE Select	NP_005723.2:p.Lys122=