Canonical Allele Identifier: CA163521

Gene: RAD50

Linked Data

• ClinVar Variation Id: 140768
• ClinVar RCV Id: RCV000128894 ; RCV000410486 ; RCV000590384 ; RCV001800421 ; RCV003315862
• dbSNP Id: rs34147298
• ExAC: 5:131931320 C / T
• gnomAD v2: 5-131931320-C-T
• gnomAD v3: 5-132595628-C-T
• gnomAD v4: 5-132595628-C-T
• MyVariant Identifiers: chr5:g.131931320C>T (hg19) ; chr5:g.132595628C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595628C>T , CM000667.2:g.132595628C>T	GRCh38
NC_000005.9:g.131931320C>T , CM000667.1:g.131931320C>T	GRCh37
NC_000005.8:g.131959219C>T	NCBI36
NG_021151.1:g.43705C>T
NG_021151.2:g.43652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2025C>T MANE Select	ENSP00000368100.4:p.Asp675=
ENST00000638452.2:c.1728C>T	ENSP00000492349.2:p.Asp576=
ENST00000638504.1:n.1633C>T
ENST00000638568.2:c.1728C>T	ENSP00000491158.2:p.Asp576=
ENST00000639899.1:n.2544C>T
ENST00000640655.2:c.1728C>T	ENSP00000491596.2:p.Asp576=
ENST00000651160.1:c.*169C>T	ENSP00000498829.1:n.*169C>T
ENST00000651658.1:n.2568C>T
ENST00000651723.1:c.*2108C>T	ENSP00000498237.1:n.*2108C>T
ENST00000652016.1:c.*242C>T	ENSP00000498267.1:n.*242C>T
ENST00000652485.1:c.2058C>T	ENSP00000498973.1:p.Asp686=
ENST00000378823.7:c.2025C>T	ENSP00000368100.4:p.Asp675=
ENST00000423956.5:c.*211C>T	ENSP00000390971.1:n.*211C>T
ENST00000453394.5:c.1842C>T	ENSP00000400049.1:p.Asp614=
ENST00000496204.1:n.108C>T
ENST00000533482.5:c.*1651C>T	ENSP00000431225.1:n.*1651C>T
NM_005732.3:c.2025C>T	NP_005723.2:p.Asp675=
NM_005732.4:c.2025C>T MANE Select	NP_005723.2:p.Asp675=