Canonical Allele Identifier: CA360956162

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131940501C>T (hg19) ; chr5:g.132604809C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604809C>T , CM000667.2:g.132604809C>T	GRCh38
NC_000005.9:g.131940501C>T , CM000667.1:g.131940501C>T	GRCh37
NC_000005.8:g.131968400C>T	NCBI36
NG_021151.1:g.52886C>T
NG_021151.2:g.52833C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2528C>T MANE Select	ENSP00000368100.4:p.Ser843Phe
ENST00000638452.2:c.2231C>T	ENSP00000492349.2:p.Ser744Phe
ENST00000638504.1:n.2136C>T
ENST00000638568.2:c.2231C>T	ENSP00000491158.2:p.Ser744Phe
ENST00000639899.1:n.3047C>T
ENST00000640655.2:c.2231C>T	ENSP00000491596.2:p.Ser744Phe
ENST00000651160.1:c.*672C>T	ENSP00000498829.1:n.*672C>T
ENST00000651723.1:c.*2611C>T	ENSP00000498237.1:n.*2611C>T
ENST00000652016.1:c.*745C>T	ENSP00000498267.1:n.*745C>T
ENST00000652485.1:c.2561C>T	ENSP00000498973.1:p.Ser854Phe
ENST00000378823.7:c.2528C>T	ENSP00000368100.4:p.Ser843Phe
ENST00000423956.5:c.*714C>T	ENSP00000390971.1:n.*714C>T
ENST00000533482.5:c.*2154C>T	ENSP00000431225.1:n.*2154C>T
NM_005732.3:c.2528C>T	NP_005723.2:p.Ser843Phe
NM_005732.4:c.2528C>T MANE Select	NP_005723.2:p.Ser843Phe