Canonical Allele Identifier: CA452341408

Gene: AHI1

Linked Data

• gnomAD v4: 6-135290486-T-C
• MyVariant Identifiers: chr6:g.135611624T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135290486T>C , CM000668.2:g.135290486T>C	GRCh38
NC_000006.11:g.135611624T>C , CM000668.1:g.135611624T>C	GRCh37
NC_000006.10:g.135653317T>C	NCBI36
NG_008643.1:g.212280A>G
NG_008643.2:g.212280A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000265602.11:c.3525A>G MANE Select	ENSP00000265602.6:p.Gly1175=
ENST00000498558.6:n.566A>G
ENST00000527681.2:c.1194A>G
ENST00000679434.1:c.5141A>G	ENSP00000505592.1:n.5141A>G
ENST00000679450.1:c.3264A>G	ENSP00000506494.1:p.Gly1088=
ENST00000679490.1:n.2900A>G
ENST00000679502.1:n.2361-4839A>G
ENST00000679589.1:c.*3553A>G	ENSP00000506644.1:n.*3553A>G
ENST00000679668.1:c.5057A>G	ENSP00000505364.1:n.5057A>G
ENST00000679672.1:c.*1500A>G	ENSP00000505697.1:n.*1500A>G
ENST00000679711.1:c.1819A>G
ENST00000679742.1:c.4896-4839A>G	ENSP00000504890.1:n.4896-4839A>G
ENST00000679890.1:n.2016A>G
ENST00000679925.1:c.3486-4839A>G	ENSP00000505502.1:n.3486-4839A>G
ENST00000679943.1:c.3586A>G	ENSP00000505663.1:n.3586A>G
ENST00000680071.1:n.4298A>G
ENST00000680119.1:c.3750A>G	ENSP00000506403.1:n.3750A>G
ENST00000680328.1:n.634A>G
ENST00000680337.1:c.944-4839A>G
ENST00000680561.1:n.6229-4839A>G
ENST00000680826.1:c.3710A>G	ENSP00000505224.1:n.3710A>G
ENST00000680840.1:c.3753A>G	ENSP00000505809.1:n.3753A>G
ENST00000680965.1:c.*979A>G	ENSP00000505398.1:n.*979A>G
ENST00000681022.1:c.3525A>G	ENSP00000505121.1:p.Gly1175=
ENST00000681057.1:n.2744-4839A>G
ENST00000681196.1:n.4259-4839A>G
ENST00000681301.1:c.3372A>G	ENSP00000505093.1:p.Gly1124=
ENST00000681331.1:n.1254A>G
ENST00000681332.1:n.4042A>G
ENST00000681340.1:c.3525A>G	ENSP00000505666.1:p.Gly1175=
ENST00000681365.1:c.3525A>G	ENSP00000506604.1:p.Gly1175=
ENST00000681488.1:c.3394A>G	ENSP00000505884.1:n.3394A>G
ENST00000681522.1:c.3525A>G	ENSP00000506005.1:p.Gly1175=
ENST00000681556.1:n.3659A>G
ENST00000681718.1:c.*2012A>G	ENSP00000505266.1:n.*2012A>G
ENST00000681754.1:n.4213A>G
ENST00000681828.1:c.5081A>G	ENSP00000505608.1:n.5081A>G
ENST00000681841.1:c.3525A>G	ENSP00000504965.1:p.Gly1175=
ENST00000681860.1:c.3341A>G	ENSP00000506250.1:n.3341A>G
ENST00000265602.10:c.3525A>G	ENSP00000265602.6:p.Gly1175=
ENST00000367799.6:c.1985-4839A>G
ENST00000367800.8:c.3525A>G	ENSP00000356774.4:p.Gly1175=
ENST00000457866.6:c.3525A>G	ENSP00000388650.2:p.Gly1175=
ENST00000475846.6:c.1955A>G
ENST00000487135.1:n.155-4839A>G
ENST00000498558.5:n.374A>G
ENST00000527681.1:c.134A>G
NM_001134830.1:c.3525A>G	NP_001128302.1:p.Gly1175=
NM_001134831.1:c.3525A>G	NP_001128303.1:p.Gly1175=
NM_017651.4:c.3525A>G	NP_060121.3:p.Gly1175=
XM_011535910.1:c.3525A>G	XP_011534212.1:p.Gly1175=
XM_011535911.1:c.3525A>G	XP_011534213.1:p.Gly1175=
XM_011535914.1:c.*46A>G	XP_011534216.1:n.*46A>G
XM_011535915.1:c.3486-4839A>G	XP_011534217.1:n.3486-4839A>G
XR_942488.1:n.5367A>G
XR_942490.1:n.5328-4839A>G
XR_942493.1:n.5228A>G
XR_942494.1:n.5065A>G
NM_001350503.1:c.3525A>G	NP_001337432.1:p.Gly1175=
NM_001350504.1:c.3486-4839A>G	NP_001337433.1:n.3486-4839A>G
XM_011535910.3:c.3525A>G	XP_011534212.1:p.Gly1175=
XM_011535911.3:c.3525A>G	XP_011534213.1:p.Gly1175=
XM_017010980.2:c.*46A>G	XP_016866469.1:n.*46A>G
XM_017010981.2:c.3471A>G	XP_016866470.1:p.Gly1157=
XM_024446479.1:c.3471A>G	XP_024302247.1:p.Gly1157=
XR_001743479.2:n.5464A>G
XR_001743480.2:n.4292A>G
XR_001743481.2:n.4257A>G
XR_001743482.2:n.4160A>G
XR_001743483.2:n.5425-4839A>G
XR_001743484.2:n.5325A>G
XR_001743485.2:n.4021A>G
XR_001743486.2:n.5286-4839A>G
XR_001743487.2:n.5447A>G
XR_001743488.1:n.5689A>G
XR_001743489.2:n.5162A>G
XR_001743490.2:n.4143A>G
XR_002956286.1:n.3796A>G
XR_002956287.1:n.3757-4839A>G
NM_001134831.2:c.3525A>G MANE Select	NP_001128303.1:p.Gly1175=
NM_001134830.2:c.3525A>G	NP_001128302.1:p.Gly1175=
NM_001350503.2:c.3525A>G	NP_001337432.1:p.Gly1175=
NM_001350504.2:c.3486-4839A>G	NP_001337433.1:n.3486-4839A>G
NM_017651.5:c.3525A>G	NP_060121.3:p.Gly1175=