Canonical Allele Identifier: CA2675219060

Gene: RAD50

Linked Data

• gnomAD v4: 5-132618018-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618018G>T , CM000667.2:g.132618018G>T	GRCh38
NC_000005.9:g.131953710G>T , CM000667.1:g.131953710G>T	GRCh37
NC_000005.8:g.131981609G>T	NCBI36
NG_021151.1:g.66095G>T
NG_021151.2:g.66042G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3165-52G>T MANE Select	ENSP00000368100.4:n.3165-52G>T
ENST00000638452.2:c.2868-52G>T	ENSP00000492349.2:n.2868-52G>T
ENST00000638504.1:n.2773-52G>T
ENST00000638568.2:c.2868-52G>T	ENSP00000491158.2:n.2868-52G>T
ENST00000639899.1:n.3684-52G>T
ENST00000640655.2:c.2868-52G>T	ENSP00000491596.2:n.2868-52G>T
ENST00000378823.7:c.3165-52G>T	ENSP00000368100.4:n.3165-52G>T
ENST00000533482.5:c.*2791-52G>T	ENSP00000431225.1:n.*2791-52G>T
NM_005732.3:c.3165-52G>T	NP_005723.2:n.3165-52G>T
NM_005732.4:c.3165-52G>T MANE Select	NP_005723.2:n.3165-52G>T