Canonical Allele Identifier: CA365840868

Gene: AHI1

Linked Data

• dbSNP Id: rs1480785408
• gnomAD v2: 6-135611638-G-A
• gnomAD v4: 6-135290500-G-A
• MyVariant Identifiers: chr6:g.135611638G>A (hg19) ; chr6:g.135290500G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290500G>A , CM000668.2:g.135290500G>A	GRCh38
NC_000006.11:g.135611638G>A , CM000668.1:g.135611638G>A	GRCh37
NC_000006.10:g.135653331G>A	NCBI36
NG_008643.1:g.212266C>T
NG_008643.2:g.212266C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.3511C>T MANE Select	ENSP00000265602.6:p.His1171Tyr
ENST00000498558.6:n.552C>T
ENST00000527681.2:c.1180C>T
ENST00000679434.1:c.5127C>T	ENSP00000505592.1:n.5127C>T
ENST00000679450.1:c.3250C>T	ENSP00000506494.1:p.His1084Tyr
ENST00000679490.1:n.2886C>T
ENST00000679502.1:n.2361-4853C>T
ENST00000679589.1:c.*3539C>T	ENSP00000506644.1:n.*3539C>T
ENST00000679668.1:c.5043C>T	ENSP00000505364.1:n.5043C>T
ENST00000679672.1:c.*1486C>T	ENSP00000505697.1:n.*1486C>T
ENST00000679711.1:c.1805C>T
ENST00000679742.1:c.4896-4853C>T	ENSP00000504890.1:n.4896-4853C>T
ENST00000679890.1:n.2002C>T
ENST00000679925.1:c.3486-4853C>T	ENSP00000505502.1:n.3486-4853C>T
ENST00000679943.1:c.3572C>T	ENSP00000505663.1:n.3572C>T
ENST00000680071.1:n.4284C>T
ENST00000680119.1:c.3736C>T	ENSP00000506403.1:n.3736C>T
ENST00000680328.1:n.620C>T
ENST00000680337.1:c.944-4853C>T
ENST00000680561.1:n.6229-4853C>T
ENST00000680826.1:c.3696C>T	ENSP00000505224.1:n.3696C>T
ENST00000680840.1:c.3739C>T	ENSP00000505809.1:n.3739C>T
ENST00000680965.1:c.*965C>T	ENSP00000505398.1:n.*965C>T
ENST00000681022.1:c.3511C>T	ENSP00000505121.1:p.His1171Tyr
ENST00000681057.1:n.2744-4853C>T
ENST00000681196.1:n.4259-4853C>T
ENST00000681301.1:c.3358C>T	ENSP00000505093.1:p.His1120Tyr
ENST00000681331.1:n.1240C>T
ENST00000681332.1:n.4028C>T
ENST00000681340.1:c.3511C>T	ENSP00000505666.1:p.His1171Tyr
ENST00000681365.1:c.3511C>T	ENSP00000506604.1:p.His1171Tyr
ENST00000681488.1:c.3380C>T	ENSP00000505884.1:n.3380C>T
ENST00000681522.1:c.3511C>T	ENSP00000506005.1:p.His1171Tyr
ENST00000681556.1:n.3645C>T
ENST00000681718.1:c.*1998C>T	ENSP00000505266.1:n.*1998C>T
ENST00000681754.1:n.4199C>T
ENST00000681828.1:c.5067C>T	ENSP00000505608.1:n.5067C>T
ENST00000681841.1:c.3511C>T	ENSP00000504965.1:p.His1171Tyr
ENST00000681860.1:c.3327C>T	ENSP00000506250.1:n.3327C>T
ENST00000265602.10:c.3511C>T	ENSP00000265602.6:p.His1171Tyr
ENST00000367799.6:c.1985-4853C>T
ENST00000367800.8:c.3511C>T	ENSP00000356774.4:p.His1171Tyr
ENST00000457866.6:c.3511C>T	ENSP00000388650.2:p.His1171Tyr
ENST00000475846.6:c.1941C>T
ENST00000487135.1:n.155-4853C>T
ENST00000498558.5:n.360C>T
ENST00000527681.1:c.120C>T
NM_001134830.1:c.3511C>T	NP_001128302.1:p.His1171Tyr
NM_001134831.1:c.3511C>T	NP_001128303.1:p.His1171Tyr
NM_017651.4:c.3511C>T	NP_060121.3:p.His1171Tyr
XM_011535910.1:c.3511C>T	XP_011534212.1:p.His1171Tyr
XM_011535911.1:c.3511C>T	XP_011534213.1:p.His1171Tyr
XM_011535914.1:c.*32C>T	XP_011534216.1:n.*32C>T
XM_011535915.1:c.3486-4853C>T	XP_011534217.1:n.3486-4853C>T
XR_942488.1:n.5353C>T
XR_942490.1:n.5328-4853C>T
XR_942493.1:n.5214C>T
XR_942494.1:n.5051C>T
NM_001350503.1:c.3511C>T	NP_001337432.1:p.His1171Tyr
NM_001350504.1:c.3486-4853C>T	NP_001337433.1:n.3486-4853C>T
XM_011535910.3:c.3511C>T	XP_011534212.1:p.His1171Tyr
XM_011535911.3:c.3511C>T	XP_011534213.1:p.His1171Tyr
XM_017010980.2:c.*32C>T	XP_016866469.1:n.*32C>T
XM_017010981.2:c.3457C>T	XP_016866470.1:p.His1153Tyr
XM_024446479.1:c.3457C>T	XP_024302247.1:p.His1153Tyr
XR_001743479.2:n.5450C>T
XR_001743480.2:n.4278C>T
XR_001743481.2:n.4243C>T
XR_001743482.2:n.4146C>T
XR_001743483.2:n.5425-4853C>T
XR_001743484.2:n.5311C>T
XR_001743485.2:n.4007C>T
XR_001743486.2:n.5286-4853C>T
XR_001743487.2:n.5433C>T
XR_001743488.1:n.5675C>T
XR_001743489.2:n.5148C>T
XR_001743490.2:n.4129C>T
XR_002956286.1:n.3782C>T
XR_002956287.1:n.3757-4853C>T
NM_001134831.2:c.3511C>T MANE Select	NP_001128303.1:p.His1171Tyr
NM_001134830.2:c.3511C>T	NP_001128302.1:p.His1171Tyr
NM_001350503.2:c.3511C>T	NP_001337432.1:p.His1171Tyr
NM_001350504.2:c.3486-4853C>T	NP_001337433.1:n.3486-4853C>T
NM_017651.5:c.3511C>T	NP_060121.3:p.His1171Tyr