Canonical Allele Identifier: CA360960710

Gene: RAD50

Linked Data

• MyVariant Identifiers: chr5:g.131945035G>T (hg19) ; chr5:g.132609343G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609343G>T , CM000667.2:g.132609343G>T	GRCh38
NC_000005.9:g.131945035G>T , CM000667.1:g.131945035G>T	GRCh37
NC_000005.8:g.131972934G>T	NCBI36
NG_021151.1:g.57420G>T
NG_021151.2:g.57367G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2983G>T MANE Select	ENSP00000368100.4:p.Glu995Ter
ENST00000638452.2:c.2686G>T	ENSP00000492349.2:p.Glu896Ter
ENST00000638504.1:n.2591G>T
ENST00000638568.2:c.2686G>T	ENSP00000491158.2:p.Glu896Ter
ENST00000639899.1:n.3502G>T
ENST00000640655.2:c.2686G>T	ENSP00000491596.2:p.Glu896Ter
ENST00000651723.1:c.*3066G>T	ENSP00000498237.1:n.*3066G>T
ENST00000378823.7:c.2983G>T	ENSP00000368100.4:p.Glu995Ter
ENST00000533482.5:c.*2609G>T	ENSP00000431225.1:n.*2609G>T
NM_005732.3:c.2983G>T	NP_005723.2:p.Glu995Ter
NM_005732.4:c.2983G>T MANE Select	NP_005723.2:p.Glu995Ter