Canonical Allele Identifier: CA10625857

Gene: AHI1

Linked Data

• ClinVar Variation Id: 355488
• ClinVar RCV Id: RCV000338008
• dbSNP Id: rs886061106
• gnomAD v2: 6-135606336-A-T
• gnomAD v3: 6-135285198-A-T
• gnomAD v4: 6-135285198-A-T
• MyVariant Identifiers: chr6:g.135606336A>T (hg19) ; chr6:g.135285198A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135285198A>T , CM000668.2:g.135285198A>T	GRCh38
NC_000006.11:g.135606336A>T , CM000668.1:g.135606336A>T	GRCh37
NC_000006.10:g.135648029A>T	NCBI36
NG_008643.1:g.217568T>A
NG_008643.2:g.217568T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.*447T>A MANE Select	ENSP00000265602.6:n.*447T>A
ENST00000498558.6:n.1079T>A
ENST00000527681.2:c.1707T>A
ENST00000679434.1:c.5654T>A	ENSP00000505592.1:n.5654T>A
ENST00000679490.1:n.3413T>A
ENST00000679502.1:n.2810T>A
ENST00000679589.1:c.*4066T>A	ENSP00000506644.1:n.*4066T>A
ENST00000679668.1:c.5570T>A	ENSP00000505364.1:n.5570T>A
ENST00000679672.1:c.*2013T>A	ENSP00000505697.1:n.*2013T>A
ENST00000679711.1:c.2332T>A
ENST00000679742.1:c.5345T>A	ENSP00000504890.1:n.5345T>A
ENST00000679890.1:n.2529T>A
ENST00000679925.1:c.*428T>A	ENSP00000505502.1:n.*428T>A
ENST00000680071.1:n.4811T>A
ENST00000680119.1:c.4263T>A	ENSP00000506403.1:n.4263T>A
ENST00000680328.1:n.1142T>A
ENST00000680337.1:c.1393T>A
ENST00000680561.1:n.6678T>A
ENST00000680826.1:c.4223T>A	ENSP00000505224.1:n.4223T>A
ENST00000680840.1:c.4266T>A	ENSP00000505809.1:n.4266T>A
ENST00000680965.1:c.*1492T>A	ENSP00000505398.1:n.*1492T>A
ENST00000681022.1:c.*447T>A	ENSP00000505121.1:n.*447T>A
ENST00000681196.1:n.4708T>A
ENST00000681331.1:n.1767T>A
ENST00000681332.1:n.4555T>A
ENST00000681340.1:c.*447T>A	ENSP00000505666.1:n.*447T>A
ENST00000681365.1:c.*447T>A	ENSP00000506604.1:n.*447T>A
ENST00000681522.1:c.*447T>A	ENSP00000506005.1:n.*447T>A
ENST00000681556.1:n.4172T>A
ENST00000681718.1:c.*2525T>A	ENSP00000505266.1:n.*2525T>A
ENST00000681754.1:n.4726T>A
ENST00000681828.1:c.5594T>A	ENSP00000505608.1:n.5594T>A
ENST00000681841.1:c.*447T>A	ENSP00000504965.1:n.*447T>A
ENST00000681860.1:c.3854T>A	ENSP00000506250.1:n.3854T>A
ENST00000367800.8:c.*447T>A	ENSP00000356774.4:n.*447T>A
ENST00000457866.6:c.*447T>A	ENSP00000388650.2:n.*447T>A
ENST00000475846.6:c.2618T>A
ENST00000498558.5:n.887T>A
NM_001134830.1:c.*447T>A	NP_001128302.1:n.*447T>A
NM_001134831.1:c.*447T>A	NP_001128303.1:n.*447T>A
NM_017651.4:c.*447T>A	NP_060121.3:n.*447T>A
XM_011535910.1:c.*447T>A	XP_011534212.1:n.*447T>A
XM_011535911.1:c.*447T>A	XP_011534213.1:n.*447T>A
XM_011535915.1:c.*428T>A	XP_011534217.1:n.*428T>A
XR_942488.1:n.5880T>A
XR_942493.1:n.5741T>A
XR_942494.1:n.5578T>A
NM_001350503.1:c.*447T>A	NP_001337432.1:n.*447T>A
NM_001350504.1:c.*428T>A	NP_001337433.1:n.*428T>A
XM_011535910.3:c.*447T>A	XP_011534212.1:n.*447T>A
XM_017010981.2:c.*447T>A	XP_016866470.1:n.*447T>A
XR_001743479.2:n.5977T>A
XR_001743480.2:n.4805T>A
XR_001743481.2:n.4770T>A
XR_001743482.2:n.4673T>A
XR_001743483.2:n.5874T>A
XR_001743484.2:n.5838T>A
XR_001743485.2:n.4534T>A
XR_001743486.2:n.5735T>A
XR_001743487.2:n.5960T>A
XR_001743488.1:n.6202T>A
XR_001743489.2:n.5675T>A
XR_001743490.2:n.4656T>A
XR_002956286.1:n.4309T>A
XR_002956287.1:n.4206T>A
NM_001134831.2:c.*447T>A MANE Select	NP_001128303.1:n.*447T>A
NM_001134830.2:c.*447T>A	NP_001128302.1:n.*447T>A
NM_001350503.2:c.*447T>A	NP_001337432.1:n.*447T>A
NM_001350504.2:c.*428T>A	NP_001337433.1:n.*428T>A
NM_017651.5:c.*447T>A	NP_060121.3:n.*447T>A