Canonical Allele Identifier: CA562778019

Gene: RAD50

Linked Data

• dbSNP Id: rs1379176700
• gnomAD v2: 5-131954117-C-T
• gnomAD v3: 5-132618425-C-T
• gnomAD v4: 5-132618425-C-T
• MyVariant Identifiers: chr5:g.131954117C>T (hg19) ; chr5:g.132618425C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618425C>T , CM000667.2:g.132618425C>T	GRCh38
NC_000005.9:g.131954117C>T , CM000667.1:g.131954117C>T	GRCh37
NC_000005.8:g.131982016C>T	NCBI36
NG_021151.1:g.66502C>T
NG_021151.2:g.66449C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3389+131C>T MANE Select	ENSP00000368100.4:n.3389+131C>T
ENST00000638452.2:c.3092+131C>T	ENSP00000492349.2:n.3092+131C>T
ENST00000638504.1:n.2997+131C>T
ENST00000638568.2:c.3092+131C>T	ENSP00000491158.2:n.3092+131C>T
ENST00000639899.1:n.3908+131C>T
ENST00000640655.2:c.3092+131C>T	ENSP00000491596.2:n.3092+131C>T
ENST00000651249.1:c.225+131C>T
ENST00000378823.7:c.3389+131C>T	ENSP00000368100.4:n.3389+131C>T
ENST00000455677.1:c.24+131C>T
ENST00000533482.5:c.*3015+131C>T	ENSP00000431225.1:n.*3015+131C>T
NM_005732.3:c.3389+131C>T	NP_005723.2:n.3389+131C>T
NM_005732.4:c.3389+131C>T MANE Select	NP_005723.2:n.3389+131C>T