Canonical Allele Identifier: CA360936139

Gene: RAD50

Linked Data

• ClinVar Variation Id: 578214
• ClinVar RCV Id: RCV000701155
• dbSNP Id: rs1561636222
• gnomAD v4: 5-132579957-A-G
• MyVariant Identifiers: chr5:g.131915649A>G (hg19) ; chr5:g.132579957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579957A>G , CM000667.2:g.132579957A>G	GRCh38
NC_000005.9:g.131915649A>G , CM000667.1:g.131915649A>G	GRCh37
NC_000005.8:g.131943548A>G	NCBI36
NG_021151.1:g.28034A>G
NG_021151.2:g.27981A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.647A>G MANE Select	ENSP00000368100.4:p.Tyr216Cys
ENST00000638452.2:c.350A>G	ENSP00000492349.2:p.Tyr117Cys
ENST00000638504.1:n.442+4029A>G
ENST00000638568.2:c.350A>G	ENSP00000491158.2:p.Tyr117Cys
ENST00000639899.1:n.1166A>G
ENST00000640655.2:c.350A>G	ENSP00000491596.2:p.Tyr117Cys
ENST00000651160.1:c.647A>G	ENSP00000498829.1:p.Tyr216Cys
ENST00000651541.1:c.350A>G	ENSP00000498795.1:p.Tyr117Cys
ENST00000651658.1:n.1074A>G
ENST00000651723.1:c.*730A>G	ENSP00000498237.1:n.*730A>G
ENST00000652016.1:c.647A>G	ENSP00000498267.1:p.Tyr216Cys
ENST00000652485.1:c.647A>G	ENSP00000498973.1:p.Tyr216Cys
ENST00000378823.7:c.647A>G	ENSP00000368100.4:p.Tyr216Cys
ENST00000423956.5:c.647A>G	ENSP00000390971.1:p.Tyr216Cys
ENST00000453394.5:c.647A>G	ENSP00000400049.1:p.Tyr216Cys
ENST00000487596.1:n.213A>G
ENST00000533482.5:c.*273A>G	ENSP00000431225.1:n.*273A>G
NM_005732.3:c.647A>G	NP_005723.2:p.Tyr216Cys
NM_005732.4:c.647A>G MANE Select	NP_005723.2:p.Tyr216Cys