Canonical Allele Identifier: CA10578488

Gene: RAD50

Linked Data

• ClinVar Variation Id: 233240
• ClinVar RCV Id: RCV000214619
• dbSNP Id: rs876660281
• MyVariant Identifiers: chr5:g.131915120A>T (hg19) ; chr5:g.132579428A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132579428A>T , CM000667.2:g.132579428A>T	GRCh38
NC_000005.9:g.131915120A>T , CM000667.1:g.131915120A>T	GRCh37
NC_000005.8:g.131943019A>T	NCBI36
NG_021151.1:g.27505A>T
NG_021151.2:g.27452A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.477A>T MANE Select	ENSP00000368100.4:p.Gln159His
ENST00000638452.2:c.180A>T	ENSP00000492349.2:p.Gln60His
ENST00000638504.1:n.442+3500A>T
ENST00000638568.2:c.180A>T	ENSP00000491158.2:p.Gln60His
ENST00000639899.1:n.637A>T
ENST00000640655.2:c.180A>T	ENSP00000491596.2:p.Gln60His
ENST00000651160.1:c.477A>T	ENSP00000498829.1:p.Gln159His
ENST00000651541.1:c.180A>T	ENSP00000498795.1:p.Gln60His
ENST00000651658.1:n.545A>T
ENST00000651723.1:c.*560A>T	ENSP00000498237.1:n.*560A>T
ENST00000652016.1:c.477A>T	ENSP00000498267.1:p.Gln159His
ENST00000652485.1:c.477A>T	ENSP00000498973.1:p.Gln159His
ENST00000378823.7:c.477A>T	ENSP00000368100.4:p.Gln159His
ENST00000416135.5:c.180A>T	ENSP00000389515.1:p.Gln60His
ENST00000423956.5:c.477A>T	ENSP00000390971.1:p.Gln159His
ENST00000453394.5:c.477A>T	ENSP00000400049.1:p.Gln159His
ENST00000533482.5:c.*103A>T	ENSP00000431225.1:n.*103A>T
NM_005732.3:c.477A>T	NP_005723.2:p.Gln159His
NM_005732.4:c.477A>T MANE Select	NP_005723.2:p.Gln159His