Canonical Allele Identifier: CA446364119

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940604A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604912A>T , CM000667.2:g.132604912A>T	GRCh38
NC_000005.9:g.131940604A>T , CM000667.1:g.131940604A>T	GRCh37
NC_000005.8:g.131968503A>T	NCBI36
NG_021151.1:g.52989A>T
NG_021151.2:g.52936A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2631A>T MANE Select	ENSP00000368100.4:p.Ile877=
ENST00000638452.2:c.2334A>T	ENSP00000492349.2:p.Ile778=
ENST00000638504.1:n.2239A>T
ENST00000638568.2:c.2334A>T	ENSP00000491158.2:p.Ile778=
ENST00000639899.1:n.3150A>T
ENST00000640655.2:c.2334A>T	ENSP00000491596.2:p.Ile778=
ENST00000651160.1:c.*775A>T	ENSP00000498829.1:n.*775A>T
ENST00000651723.1:c.*2714A>T	ENSP00000498237.1:n.*2714A>T
ENST00000652016.1:c.*848A>T	ENSP00000498267.1:n.*848A>T
ENST00000652485.1:c.2664A>T	ENSP00000498973.1:p.Ile888=
ENST00000378823.7:c.2631A>T	ENSP00000368100.4:p.Ile877=
ENST00000423956.5:c.*817A>T	ENSP00000390971.1:n.*817A>T
ENST00000533482.5:c.*2257A>T	ENSP00000431225.1:n.*2257A>T
NM_005732.3:c.2631A>T	NP_005723.2:p.Ile877=
NM_005732.4:c.2631A>T MANE Select	NP_005723.2:p.Ile877=