Canonical Allele Identifier: CA360956943

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940672C>T (hg19) ; chr5:g.132604980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604980C>T , CM000667.2:g.132604980C>T	GRCh38
NC_000005.9:g.131940672C>T , CM000667.1:g.131940672C>T	GRCh37
NC_000005.8:g.131968571C>T	NCBI36
NG_021151.1:g.53057C>T
NG_021151.2:g.53004C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2699C>T MANE Select	ENSP00000368100.4:p.Ser900Phe
ENST00000638452.2:c.2402C>T	ENSP00000492349.2:p.Ser801Phe
ENST00000638504.1:n.2307C>T
ENST00000638568.2:c.2402C>T	ENSP00000491158.2:p.Ser801Phe
ENST00000639899.1:n.3218C>T
ENST00000640655.2:c.2402C>T	ENSP00000491596.2:p.Ser801Phe
ENST00000651160.1:c.*843C>T	ENSP00000498829.1:n.*843C>T
ENST00000651723.1:c.*2782C>T	ENSP00000498237.1:n.*2782C>T
ENST00000652016.1:c.*916C>T	ENSP00000498267.1:n.*916C>T
ENST00000378823.7:c.2699C>T	ENSP00000368100.4:p.Ser900Phe
ENST00000423956.5:c.*885C>T	ENSP00000390971.1:n.*885C>T
ENST00000533482.5:c.*2325C>T	ENSP00000431225.1:n.*2325C>T
NM_005732.3:c.2699C>T	NP_005723.2:p.Ser900Phe
NM_005732.4:c.2699C>T MANE Select	NP_005723.2:p.Ser900Phe