Canonical Allele Identifier: CA360930196

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131911482C>T (hg19) ; chr5:g.132575790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132575790C>T , CM000667.2:g.132575790C>T	GRCh38
NC_000005.9:g.131911482C>T , CM000667.1:g.131911482C>T	GRCh37
NC_000005.8:g.131939381C>T	NCBI36
NG_021151.1:g.23867C>T
NG_021151.2:g.23814C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.227C>T MANE Select	ENSP00000368100.4:p.Thr76Ile
ENST00000638452.2:c.-71C>T	ENSP00000492349.2:n.-71C>T
ENST00000638504.1:n.304C>T
ENST00000638568.2:c.-71C>T	ENSP00000491158.2:n.-71C>T
ENST00000639899.1:n.387C>T
ENST00000640655.2:c.-71C>T	ENSP00000491596.2:n.-71C>T
ENST00000651160.1:c.227C>T	ENSP00000498829.1:p.Thr76Ile
ENST00000651541.1:c.-71C>T	ENSP00000498795.1:n.-71C>T
ENST00000651658.1:n.295C>T
ENST00000651723.1:c.*375C>T	ENSP00000498237.1:n.*375C>T
ENST00000652016.1:c.227C>T	ENSP00000498267.1:p.Thr76Ile
ENST00000652485.1:c.227C>T	ENSP00000498973.1:p.Thr76Ile
ENST00000378823.7:c.227C>T	ENSP00000368100.4:p.Thr76Ile
ENST00000416135.5:c.-71C>T	ENSP00000389515.1:n.-71C>T
ENST00000423956.5:c.227C>T	ENSP00000390971.1:p.Thr76Ile
ENST00000453394.5:c.227C>T	ENSP00000400049.1:p.Thr76Ile
ENST00000533482.5:c.227C>T	ENSP00000431225.1:p.Thr76Ile
NM_005732.3:c.227C>T	NP_005723.2:p.Thr76Ile
NM_005732.4:c.227C>T MANE Select	NP_005723.2:p.Thr76Ile