Canonical Allele Identifier: CA360964947

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953943C>A (hg19) ; chr5:g.132618251C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618251C>A , CM000667.2:g.132618251C>A	GRCh38
NC_000005.9:g.131953943C>A , CM000667.1:g.131953943C>A	GRCh37
NC_000005.8:g.131981842C>A	NCBI36
NG_021151.1:g.66328C>A
NG_021151.2:g.66275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3346C>A MANE Select	ENSP00000368100.4:p.Leu1116Ile
ENST00000638452.2:c.3049C>A	ENSP00000492349.2:p.Leu1017Ile
ENST00000638504.1:n.2954C>A
ENST00000638568.2:c.3049C>A	ENSP00000491158.2:p.Leu1017Ile
ENST00000639899.1:n.3865C>A
ENST00000640655.2:c.3049C>A	ENSP00000491596.2:p.Leu1017Ile
ENST00000651249.1:c.182C>A
ENST00000378823.7:c.3346C>A	ENSP00000368100.4:p.Leu1116Ile
ENST00000533482.5:c.*2972C>A	ENSP00000431225.1:n.*2972C>A
NM_005732.3:c.3346C>A	NP_005723.2:p.Leu1116Ile
NM_005732.4:c.3346C>A MANE Select	NP_005723.2:p.Leu1116Ile