Canonical Allele Identifier: CA8793254
Community Standard Title: NM_001113491.2(SEPTIN9):c.619A>G (p.Thr207Ala)
Gene: SEPTIN9 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.77402601A>G , CM000679.2:g.77402601A>G GRCh38
NC_000017.10:g.75398683A>G , CM000679.1:g.75398683A>G GRCh37
NC_000017.9:g.72910278A>G NCBI36
NG_011683.1:g.126192A>G
NG_011683.2:g.126192A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001113491.2:c.619A>G MANE Select NP_001106963.1:p.Thr207Ala
ENST00000427177.6:c.619A>G MANE Select ENSP00000391249.1:p.Thr207Ala
NM_006640.5:c.565A>G MANE Plus Clinical NP_006631.2:p.Thr189Ala
ENST00000329047.13:c.565A>G MANE Plus Clinical ENSP00000329161.8:p.Thr189Ala
NM_001113491.1:c.619A>G NP_001106963.1:p.Thr207Ala
NM_001113492.1:c.127A>G NP_001106964.1:p.Thr43Ala
NM_001113492.2:c.127A>G NP_001106964.1:p.Thr43Ala
NM_001113493.1:c.598A>G NP_001106965.1:p.Thr200Ala
NM_001113493.2:c.598A>G NP_001106965.1:p.Thr200Ala
NM_001113494.1:c.127A>G NP_001106966.1:p.Thr43Ala
NM_001293695.1:c.562A>G NP_001280624.1:p.Thr188Ala
NM_001293695.2:c.562A>G NP_001280624.1:p.Thr188Ala
NM_006640.4:c.565A>G NP_006631.2:p.Thr189Ala
ENST00000329047.12:c.565A>G ENSP00000329161.8:p.Thr189Ala
ENST00000423034.6:c.598A>G ENSP00000405877.1:p.Thr200Ala
ENST00000427177.5:c.619A>G ENSP00000391249.1:p.Thr207Ala
ENST00000427674.6:c.127A>G ENSP00000403194.1:p.Thr43Ala
ENST00000431235.6:c.127A>G ENSP00000406987.2:p.Thr43Ala
ENST00000449803.6:c.127A>G ENSP00000400181.2:p.Thr43Ala
ENST00000588575.1:c.195+106A>G ENSP00000468090.1:n.195+106A>G
ENST00000588690.5:c.127A>G ENSP00000468668.1:p.Thr43Ala
ENST00000588690.6:c.127A>G ENSP00000468668.1:p.Thr43Ala
ENST00000590059.5:c.70A>G ENSP00000466164.1:p.Thr24Ala
ENST00000590294.5:c.565A>G ENSP00000465464.1:p.Thr189Ala
ENST00000590294.6:n.668A>G
ENST00000590595.1:c.301A>G ENSP00000465026.1:p.Thr101Ala
ENST00000591198.5:c.562A>G ENSP00000468406.1:p.Thr188Ala
ENST00000592420.1:c.46A>G ENSP00000467051.1:p.Thr16Ala
XM_006721643.2:c.127A>G XP_006721706.1:p.Thr43Ala
XM_011524204.1:c.712A>G XP_011522506.1:p.Thr238Ala
XM_011524205.1:c.709A>G XP_011522507.1:p.Thr237Ala
XM_011524206.1:c.574A>G XP_011522508.1:p.Thr192Ala
XM_011524207.1:c.127A>G XP_011522509.1:p.Thr43Ala