Canonical Allele Identifier: CA360947357

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131930564G>T (hg19) ; chr5:g.132594872G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594872G>T , CM000667.2:g.132594872G>T	GRCh38
NC_000005.9:g.131930564G>T , CM000667.1:g.131930564G>T	GRCh37
NC_000005.8:g.131958463G>T	NCBI36
NG_021151.1:g.42949G>T
NG_021151.2:g.42896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1797G>T MANE Select	ENSP00000368100.4:p.Lys599Asn
ENST00000638452.2:c.1500G>T	ENSP00000492349.2:p.Lys500Asn
ENST00000638504.1:n.1480-232G>T
ENST00000638568.2:c.1500G>T	ENSP00000491158.2:p.Lys500Asn
ENST00000639899.1:n.2316G>T
ENST00000640655.2:c.1500G>T	ENSP00000491596.2:p.Lys500Asn
ENST00000651160.1:c.*16-232G>T	ENSP00000498829.1:n.*16-232G>T
ENST00000651658.1:n.2340G>T
ENST00000651723.1:c.*1880G>T	ENSP00000498237.1:n.*1880G>T
ENST00000652016.1:c.*88+195G>T	ENSP00000498267.1:n.*88+195G>T
ENST00000652485.1:c.1830G>T	ENSP00000498973.1:p.Lys610Asn
ENST00000378823.7:c.1797G>T	ENSP00000368100.4:p.Lys599Asn
ENST00000423956.5:c.1639G>T	ENSP00000390971.1:p.Gly547Ter
ENST00000453394.5:c.1614G>T	ENSP00000400049.1:p.Lys538Asn
ENST00000533482.5:c.*1423G>T	ENSP00000431225.1:n.*1423G>T
NM_005732.3:c.1797G>T	NP_005723.2:p.Lys599Asn
NM_005732.4:c.1797G>T MANE Select	NP_005723.2:p.Lys599Asn