Canonical Allele Identifier: CA2675218321

Gene: RAD50

Linked Data

• gnomAD v4: 5-132609501-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609501G>T , CM000667.2:g.132609501G>T	GRCh38
NC_000005.9:g.131945193G>T , CM000667.1:g.131945193G>T	GRCh37
NC_000005.8:g.131973092G>T	NCBI36
NG_021151.1:g.57578G>T
NG_021151.2:g.57525G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3036+105G>T MANE Select	ENSP00000368100.4:n.3036+105G>T
ENST00000638452.2:c.2739+105G>T	ENSP00000492349.2:n.2739+105G>T
ENST00000638504.1:n.2644+105G>T
ENST00000638568.2:c.2739+105G>T	ENSP00000491158.2:n.2739+105G>T
ENST00000639899.1:n.3555+105G>T
ENST00000640655.2:c.2739+105G>T	ENSP00000491596.2:n.2739+105G>T
ENST00000651723.1:c.*3119+105G>T	ENSP00000498237.1:n.*3119+105G>T
ENST00000378823.7:c.3036+105G>T	ENSP00000368100.4:n.3036+105G>T
ENST00000533482.5:c.*2662+105G>T	ENSP00000431225.1:n.*2662+105G>T
NM_005732.3:c.3036+105G>T	NP_005723.2:n.3036+105G>T
NM_005732.4:c.3036+105G>T MANE Select	NP_005723.2:n.3036+105G>T