Canonical Allele Identifier: CA360955286

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1951268
• ClinVar RCV Id: RCV002686027
• gnomAD v4: 5-132603922-G-A
• MyVariant Identifiers: chr5:g.131939614G>A (hg19) ; chr5:g.132603922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603922G>A , CM000667.2:g.132603922G>A	GRCh38
NC_000005.9:g.131939614G>A , CM000667.1:g.131939614G>A	GRCh37
NC_000005.8:g.131967513G>A	NCBI36
NG_021151.1:g.51999G>A
NG_021151.2:g.51946G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2400G>A MANE Select	ENSP00000368100.4:p.Met800Ile
ENST00000638452.2:c.2103G>A	ENSP00000492349.2:p.Met701Ile
ENST00000638504.1:n.2008G>A
ENST00000638568.2:c.2103G>A	ENSP00000491158.2:p.Met701Ile
ENST00000639899.1:n.2919G>A
ENST00000640655.2:c.2103G>A	ENSP00000491596.2:p.Met701Ile
ENST00000651160.1:c.*544G>A	ENSP00000498829.1:n.*544G>A
ENST00000651658.1:n.2943G>A
ENST00000651723.1:c.*2483G>A	ENSP00000498237.1:n.*2483G>A
ENST00000652016.1:c.*617G>A	ENSP00000498267.1:n.*617G>A
ENST00000652485.1:c.2433G>A	ENSP00000498973.1:p.Met811Ile
ENST00000378823.7:c.2400G>A	ENSP00000368100.4:p.Met800Ile
ENST00000423956.5:c.*586G>A	ENSP00000390971.1:n.*586G>A
ENST00000533482.5:c.*2026G>A	ENSP00000431225.1:n.*2026G>A
NM_005732.3:c.2400G>A	NP_005723.2:p.Met800Ile
NM_005732.4:c.2400G>A MANE Select	NP_005723.2:p.Met800Ile