Canonical Allele Identifier: CA2675217305

Gene: RAD50

Linked Data

• gnomAD v4: 5-132589885-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132589885T>G , CM000667.2:g.132589885T>G	GRCh38
NC_000005.9:g.131925577T>G , CM000667.1:g.131925577T>G	GRCh37
NC_000005.8:g.131953476T>G	NCBI36
NG_021151.1:g.37962T>G
NG_021151.2:g.37909T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1452+48T>G MANE Select	ENSP00000368100.4:n.1452+48T>G
ENST00000638452.2:c.1155+48T>G	ENSP00000492349.2:n.1155+48T>G
ENST00000638504.1:n.1138+48T>G
ENST00000638568.2:c.1155+48T>G	ENSP00000491158.2:n.1155+48T>G
ENST00000639899.1:n.1971+48T>G
ENST00000640655.2:c.1155+48T>G	ENSP00000491596.2:n.1155+48T>G
ENST00000651160.1:c.1452+48T>G	ENSP00000498829.1:n.1452+48T>G
ENST00000651541.1:c.1155+48T>G	ENSP00000498795.1:n.1155+48T>G
ENST00000651658.1:n.1879+48T>G
ENST00000651723.1:c.*1535+48T>G	ENSP00000498237.1:n.*1535+48T>G
ENST00000652016.1:c.1452+48T>G	ENSP00000498267.1:n.1452+48T>G
ENST00000652485.1:c.1452+48T>G	ENSP00000498973.1:n.1452+48T>G
ENST00000378823.7:c.1452+48T>G	ENSP00000368100.4:n.1452+48T>G
ENST00000423956.5:c.1452+48T>G	ENSP00000390971.1:n.1452+48T>G
ENST00000453394.5:c.1452+48T>G	ENSP00000400049.1:n.1452+48T>G
ENST00000533482.5:c.*1078+48T>G	ENSP00000431225.1:n.*1078+48T>G
NM_005732.3:c.1452+48T>G	NP_005723.2:n.1452+48T>G
NM_005732.4:c.1452+48T>G MANE Select	NP_005723.2:n.1452+48T>G