Canonical Allele Identifier: CA360964999

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953964A>T (hg19) ; chr5:g.132618272A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618272A>T , CM000667.2:g.132618272A>T	GRCh38
NC_000005.9:g.131953964A>T , CM000667.1:g.131953964A>T	GRCh37
NC_000005.8:g.131981863A>T	NCBI36
NG_021151.1:g.66349A>T
NG_021151.2:g.66296A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3367A>T MANE Select	ENSP00000368100.4:p.Ile1123Phe
ENST00000638452.2:c.3070A>T	ENSP00000492349.2:p.Ile1024Phe
ENST00000638504.1:n.2975A>T
ENST00000638568.2:c.3070A>T	ENSP00000491158.2:p.Ile1024Phe
ENST00000639899.1:n.3886A>T
ENST00000640655.2:c.3070A>T	ENSP00000491596.2:p.Ile1024Phe
ENST00000651249.1:c.203A>T
ENST00000378823.7:c.3367A>T	ENSP00000368100.4:p.Ile1123Phe
ENST00000455677.1:c.2A>T
ENST00000533482.5:c.*2993A>T	ENSP00000431225.1:n.*2993A>T
NM_005732.3:c.3367A>T	NP_005723.2:p.Ile1123Phe
NM_005732.4:c.3367A>T MANE Select	NP_005723.2:p.Ile1123Phe