Canonical Allele Identifier: CA826522
Gene: TOE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417748
ClinVar RCV Id: RCV000477708
dbSNP Id: rs371848318

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45341543G>A , CM000663.2:g.45341543G>A GRCh38
NC_000001.10:g.45807215G>A , CM000663.1:g.45807215G>A GRCh37
NC_000001.9:g.45579802G>A NCBI36
NG_008189.1:g.3928C>T , LRG_220:g.3928C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372090.6:c.307G>A MANE Select ENSP00000361162.5:p.Ala103Thr
ENST00000671898.1:c.541-7032C>T ENSP00000499896.1:p.=
ENST00000372090.5:c.307G>A ENSP00000361162.5:p.Ala103Thr
ENST00000460057.1:n.48+200G>A
ENST00000471337.5:n.385G>A
ENST00000477731.5:n.526G>A
ENST00000495703.5:n.577G>A
NM_025077.3:c.307G>A NP_079353.3:p.Ala103Thr
XM_005270412.2:c.325G>A XP_005270469.1:p.Ala109Thr
XM_005270413.3:c.169G>A XP_005270470.1:p.Ala57Thr
XM_011540569.1:c.-49+200G>A XP_011538871.1:p.=
XR_246230.2:n.584G>A
XR_426587.2:n.404G>A
XR_946532.1:n.404G>A
XM_005270412.4:c.325G>A XP_005270469.1:p.Ala109Thr
XM_005270413.5:c.169G>A XP_005270470.1:p.Ala57Thr
XM_011540569.3:c.-49+200G>A XP_011538871.1:p.=
XM_024452837.1:c.256G>A XP_024308605.1:p.Ala86Thr
XR_001736951.2:n.494G>A
XR_002959287.1:n.896G>A
XR_246230.4:n.494G>A
XR_426587.4:n.404G>A
XR_946532.3:n.404G>A
NM_025077.4:c.307G>A MANE Select NP_079353.3:p.Ala103Thr