Canonical Allele Identifier: CA360956877

Gene: RAD50

Linked Data

• gnomAD v4: 5-132604965-C-T
• COSMIC: COSM5880154 ; COSM5880155
• MyVariant Identifiers: chr5:g.131940657C>T (hg19) ; chr5:g.132604965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604965C>T , CM000667.2:g.132604965C>T	GRCh38
NC_000005.9:g.131940657C>T , CM000667.1:g.131940657C>T	GRCh37
NC_000005.8:g.131968556C>T	NCBI36
NG_021151.1:g.53042C>T
NG_021151.2:g.52989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2684C>T MANE Select	ENSP00000368100.4:p.Ser895Phe
ENST00000638452.2:c.2387C>T	ENSP00000492349.2:p.Ser796Phe
ENST00000638504.1:n.2292C>T
ENST00000638568.2:c.2387C>T	ENSP00000491158.2:p.Ser796Phe
ENST00000639899.1:n.3203C>T
ENST00000640655.2:c.2387C>T	ENSP00000491596.2:p.Ser796Phe
ENST00000651160.1:c.*828C>T	ENSP00000498829.1:n.*828C>T
ENST00000651723.1:c.*2767C>T	ENSP00000498237.1:n.*2767C>T
ENST00000652016.1:c.*901C>T	ENSP00000498267.1:n.*901C>T
ENST00000378823.7:c.2684C>T	ENSP00000368100.4:p.Ser895Phe
ENST00000423956.5:c.*870C>T	ENSP00000390971.1:n.*870C>T
ENST00000533482.5:c.*2310C>T	ENSP00000431225.1:n.*2310C>T
NM_005732.3:c.2684C>T	NP_005723.2:p.Ser895Phe
NM_005732.4:c.2684C>T MANE Select	NP_005723.2:p.Ser895Phe