Canonical Allele Identifier: CA360949849

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131931372G>T (hg19) ; chr5:g.132595680G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595680G>T , CM000667.2:g.132595680G>T	GRCh38
NC_000005.9:g.131931372G>T , CM000667.1:g.131931372G>T	GRCh37
NC_000005.8:g.131959271G>T	NCBI36
NG_021151.1:g.43757G>T
NG_021151.2:g.43704G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2077G>T MANE Select	ENSP00000368100.4:p.Glu693Ter
ENST00000638452.2:c.1780G>T	ENSP00000492349.2:p.Glu594Ter
ENST00000638504.1:n.1685G>T
ENST00000638568.2:c.1780G>T	ENSP00000491158.2:p.Glu594Ter
ENST00000639899.1:n.2596G>T
ENST00000640655.2:c.1780G>T	ENSP00000491596.2:p.Glu594Ter
ENST00000651160.1:c.*221G>T	ENSP00000498829.1:n.*221G>T
ENST00000651658.1:n.2620G>T
ENST00000651723.1:c.*2160G>T	ENSP00000498237.1:n.*2160G>T
ENST00000652016.1:c.*294G>T	ENSP00000498267.1:n.*294G>T
ENST00000652485.1:c.2110G>T	ENSP00000498973.1:p.Glu704Ter
ENST00000378823.7:c.2077G>T	ENSP00000368100.4:p.Glu693Ter
ENST00000423956.5:c.*263G>T	ENSP00000390971.1:n.*263G>T
ENST00000453394.5:c.1894G>T	ENSP00000400049.1:p.Glu632Ter
ENST00000496204.1:n.160G>T
ENST00000533482.5:c.*1703G>T	ENSP00000431225.1:n.*1703G>T
NM_005732.3:c.2077G>T	NP_005723.2:p.Glu693Ter
NM_005732.4:c.2077G>T MANE Select	NP_005723.2:p.Glu693Ter