Canonical Allele Identifier: CA360964421

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131953829C>T (hg19) ; chr5:g.132618137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618137C>T , CM000667.2:g.132618137C>T	GRCh38
NC_000005.9:g.131953829C>T , CM000667.1:g.131953829C>T	GRCh37
NC_000005.8:g.131981728C>T	NCBI36
NG_021151.1:g.66214C>T
NG_021151.2:g.66161C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3232C>T MANE Select	ENSP00000368100.4:p.Gln1078Ter
ENST00000638452.2:c.2935C>T	ENSP00000492349.2:p.Gln979Ter
ENST00000638504.1:n.2840C>T
ENST00000638568.2:c.2935C>T	ENSP00000491158.2:p.Gln979Ter
ENST00000639899.1:n.3751C>T
ENST00000640655.2:c.2935C>T	ENSP00000491596.2:p.Gln979Ter
ENST00000651249.1:c.68C>T
ENST00000378823.7:c.3232C>T	ENSP00000368100.4:p.Gln1078Ter
ENST00000533482.5:c.*2858C>T	ENSP00000431225.1:n.*2858C>T
NM_005732.3:c.3232C>T	NP_005723.2:p.Gln1078Ter
NM_005732.4:c.3232C>T MANE Select	NP_005723.2:p.Gln1078Ter