Canonical Allele Identifier: CA2675216506

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2713777
• ClinVar RCV Id: RCV003585565
• gnomAD v4: 5-132579854-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579854C>T , CM000667.2:g.132579854C>T	GRCh38
NC_000005.9:g.131915546C>T , CM000667.1:g.131915546C>T	GRCh37
NC_000005.8:g.131943445C>T	NCBI36
NG_021151.1:g.27931C>T
NG_021151.2:g.27878C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.552-8C>T MANE Select	ENSP00000368100.4:n.552-8C>T
ENST00000638452.2:c.255-8C>T	ENSP00000492349.2:n.255-8C>T
ENST00000638504.1:n.442+3926C>T
ENST00000638568.2:c.255-8C>T	ENSP00000491158.2:n.255-8C>T
ENST00000639899.1:n.1063C>T
ENST00000640655.2:c.255-8C>T	ENSP00000491596.2:n.255-8C>T
ENST00000651160.1:c.552-8C>T	ENSP00000498829.1:n.552-8C>T
ENST00000651541.1:c.255-8C>T	ENSP00000498795.1:n.255-8C>T
ENST00000651658.1:n.971C>T
ENST00000651723.1:c.*635-8C>T	ENSP00000498237.1:n.*635-8C>T
ENST00000652016.1:c.552-8C>T	ENSP00000498267.1:n.552-8C>T
ENST00000652485.1:c.552-8C>T	ENSP00000498973.1:n.552-8C>T
ENST00000378823.7:c.552-8C>T	ENSP00000368100.4:n.552-8C>T
ENST00000416135.5:c.255-8C>T	ENSP00000389515.1:n.255-8C>T
ENST00000423956.5:c.552-8C>T	ENSP00000390971.1:n.552-8C>T
ENST00000453394.5:c.552-8C>T	ENSP00000400049.1:n.552-8C>T
ENST00000487596.1:n.110C>T
ENST00000533482.5:c.*178-8C>T	ENSP00000431225.1:n.*178-8C>T
NM_005732.3:c.552-8C>T	NP_005723.2:n.552-8C>T
NM_005732.4:c.552-8C>T MANE Select	NP_005723.2:n.552-8C>T