Canonical Allele Identifier: CA1665838805
Gene: AHI1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.135290445C= , CM000668.2:g.135290445C= GRCh38
NC_000006.11:g.135611583C= , CM000668.1:g.135611583C= GRCh37
NC_000006.10:g.135653276C= NCBI36
NG_008643.1:g.212321G=
NG_008643.2:g.212321G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265602.11:c.3566G= MANE Select ENSP00000265602.6:p.Gly1189=
ENST00000498558.6:n.607G=
ENST00000527681.2:c.1235G=
ENST00000679434.1:c.5182G= ENSP00000505592.1:n.5182G=
ENST00000679450.1:c.3305G= ENSP00000506494.1:p.Gly1102=
ENST00000679490.1:n.2941G=
ENST00000679502.1:n.2361-4798G=
ENST00000679589.1:c.*3594G= ENSP00000506644.1:n.*3594G=
ENST00000679668.1:c.5098G= ENSP00000505364.1:n.5098G=
ENST00000679672.1:c.*1541G= ENSP00000505697.1:n.*1541G=
ENST00000679711.1:c.1860G=
ENST00000679742.1:c.4896-4798G= ENSP00000504890.1:n.4896-4798G=
ENST00000679890.1:n.2057G=
ENST00000679925.1:c.3486-4798G= ENSP00000505502.1:n.3486-4798G=
ENST00000679943.1:c.3627G= ENSP00000505663.1:n.3627G=
ENST00000680071.1:n.4339G=
ENST00000680119.1:c.3791G= ENSP00000506403.1:n.3791G=
ENST00000680328.1:n.675G=
ENST00000680337.1:c.944-4798G=
ENST00000680561.1:n.6229-4798G=
ENST00000680826.1:c.3751G= ENSP00000505224.1:n.3751G=
ENST00000680840.1:c.3794G= ENSP00000505809.1:n.3794G=
ENST00000680965.1:c.*1020G= ENSP00000505398.1:n.*1020G=
ENST00000681022.1:c.3566G= ENSP00000505121.1:p.Gly1189=
ENST00000681057.1:n.2744-4798G=
ENST00000681196.1:n.4259-4798G=
ENST00000681301.1:c.3413G= ENSP00000505093.1:p.Gly1138=
ENST00000681331.1:n.1295G=
ENST00000681332.1:n.4083G=
ENST00000681340.1:c.3566G= ENSP00000505666.1:p.Gly1189=
ENST00000681365.1:c.3566G= ENSP00000506604.1:p.Gly1189=
ENST00000681488.1:c.3435G= ENSP00000505884.1:n.3435G=
ENST00000681522.1:c.3566G= ENSP00000506005.1:p.Gly1189=
ENST00000681556.1:n.3700G=
ENST00000681718.1:c.*2053G= ENSP00000505266.1:n.*2053G=
ENST00000681754.1:n.4254G=
ENST00000681828.1:c.5122G= ENSP00000505608.1:n.5122G=
ENST00000681841.1:c.3566G= ENSP00000504965.1:p.Gly1189=
ENST00000681860.1:c.3382G= ENSP00000506250.1:n.3382G=
ENST00000265602.10:c.3566G= ENSP00000265602.6:p.Gly1189=
ENST00000367799.6:c.1985-4798G=
ENST00000367800.8:c.3566G= ENSP00000356774.4:p.Gly1189=
ENST00000457866.6:c.3566G= ENSP00000388650.2:p.Gly1189=
ENST00000475846.6:c.1996G=
ENST00000487135.1:n.155-4798G=
ENST00000498558.5:n.415G=
ENST00000527681.1:c.175G=
NM_001134830.1:c.3566G= NP_001128302.1:p.Gly1189=
NM_001134831.1:c.3566G= NP_001128303.1:p.Gly1189=
NM_017651.4:c.3566G= NP_060121.3:p.Gly1189=
XM_011535910.1:c.3566G= XP_011534212.1:p.Gly1189=
XM_011535911.1:c.3566G= XP_011534213.1:p.Gly1189=
XM_011535914.1:c.*87G= XP_011534216.1:n.*87G=
XM_011535915.1:c.3486-4798G= XP_011534217.1:n.3486-4798G=
XR_942488.1:n.5408G=
XR_942490.1:n.5328-4798G=
XR_942493.1:n.5269G=
XR_942494.1:n.5106G=
NM_001350503.1:c.3566G= NP_001337432.1:p.Gly1189=
NM_001350504.1:c.3486-4798G= NP_001337433.1:n.3486-4798G=
XM_011535910.3:c.3566G= XP_011534212.1:p.Gly1189=
XM_011535911.3:c.3566G= XP_011534213.1:p.Gly1189=
XM_017010980.2:c.*87G= XP_016866469.1:n.*87G=
XM_017010981.2:c.3512G= XP_016866470.1:p.Gly1171=
XM_024446479.1:c.3512G= XP_024302247.1:p.Gly1171=
XR_001743479.2:n.5505G=
XR_001743480.2:n.4333G=
XR_001743481.2:n.4298G=
XR_001743482.2:n.4201G=
XR_001743483.2:n.5425-4798G=
XR_001743484.2:n.5366G=
XR_001743485.2:n.4062G=
XR_001743486.2:n.5286-4798G=
XR_001743487.2:n.5488G=
XR_001743488.1:n.5730G=
XR_001743489.2:n.5203G=
XR_001743490.2:n.4184G=
XR_002956286.1:n.3837G=
XR_002956287.1:n.3757-4798G=
NM_001134831.2:c.3566G= MANE Select NP_001128303.1:p.Gly1189=
NM_001134830.2:c.3566G= NP_001128302.1:p.Gly1189=
NM_001350503.2:c.3566G= NP_001337432.1:p.Gly1189=
NM_001350504.2:c.3486-4798G= NP_001337433.1:n.3486-4798G=
NM_017651.5:c.3566G= NP_060121.3:p.Gly1189=