Canonical Allele Identifier: CA1624896
Community Standard Title: NM_005633.4(SOS1):c.39A>G (p.Glu13=)
Gene: SOS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.39120384T>C , CM000664.2:g.39120384T>C GRCh38
NC_000002.11:g.39347525T>C , CM000664.1:g.39347525T>C GRCh37
NC_000002.10:g.39201029T>C NCBI36
NG_007530.1:g.5080A>G , LRG_754:g.5080A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005633.4:c.39A>G MANE Select NP_005624.2:p.Glu13=
ENST00000402219.8:c.39A>G MANE Select ENSP00000384675.2:p.Glu13=
NM_001382394.1:c.66+4280A>G NP_001369323.1:n.66+4280A>G
NM_001382395.1:c.39A>G NP_001369324.1:p.Glu13=
NM_005633.3:c.39A>G , LRG_754t1:c.39A>G NP_005624.2:p.Glu13=
ENST00000395038.6:c.39A>G ENSP00000378479.2:p.Glu13=
ENST00000402219.6:c.39A>G ENSP00000384675.2:p.Glu13=
ENST00000426016.5:c.39A>G ENSP00000387784.1:p.Glu13=
ENST00000451331.1:c.-85+3775A>G ENSP00000393899.1:n.-85+3775A>G
ENST00000461545.2:n.66A>G
ENST00000689668.1:n.46A>G
ENST00000690679.1:c.187+3775A>G
ENST00000690876.1:c.39A>G ENSP00000508955.1:p.Glu13=
ENST00000691229.1:c.39A>G ENSP00000510437.1:p.Glu13=
ENST00000692089.1:c.39A>G ENSP00000508626.1:p.Glu13=
XM_005264515.3:c.39A>G XP_005264572.1:p.Glu13=
XM_005264515.4:c.39A>G XP_005264572.1:p.Glu13=
XM_011533062.1:c.66+4280A>G XP_011531364.1:n.66+4280A>G
XM_011533062.2:c.66+4280A>G XP_011531364.1:n.66+4280A>G
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