Canonical Allele Identifier: CA570555647

Gene: AHI1

Linked Data

• dbSNP Id: rs1367905168
• gnomAD v2: 6-135818857-T-A
• gnomAD v3: 6-135497719-T-A
• gnomAD v4: 6-135497719-T-A
• MyVariant Identifiers: chr6:g.135818857T>A (hg19) ; chr6:g.135497719T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135497719T>A , CM000668.2:g.135497719T>A	GRCh38
NC_000006.11:g.135818857T>A , CM000668.1:g.135818857T>A	GRCh37
NC_000006.10:g.135860550T>A	NCBI36
NG_008643.1:g.5047A>T
NG_008643.2:g.5047A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.-338A>T MANE Select	ENSP00000265602.6:n.-338A>T
ENST00000531527.2:n.23A>T
ENST00000679589.1:c.-338A>T	ENSP00000506644.1:n.-338A>T
ENST00000679622.1:c.-362A>T	ENSP00000506261.1:n.-362A>T
ENST00000680033.1:c.-2235A>T	ENSP00000506426.1:n.-2235A>T
ENST00000680965.1:c.-509A>T	ENSP00000505398.1:n.-509A>T
ENST00000680968.1:c.-253A>T	ENSP00000505980.1:n.-253A>T
ENST00000681022.1:c.-2235A>T	ENSP00000505121.1:n.-2235A>T
ENST00000681340.1:c.-424A>T	ENSP00000505666.1:n.-424A>T
ENST00000681477.1:c.-191A>T	ENSP00000504989.1:n.-191A>T
ENST00000681596.1:c.-5482A>T	ENSP00000505250.1:n.-5482A>T
ENST00000681718.1:c.-191A>T	ENSP00000505266.1:n.-191A>T
ENST00000681841.1:c.-447A>T	ENSP00000504965.1:n.-447A>T
ENST00000265602.10:c.-338A>T	ENSP00000265602.6:n.-338A>T
ENST00000327035.10:c.-253A>T	ENSP00000322478.6:n.-253A>T
ENST00000367800.8:c.-191A>T	ENSP00000356774.4:n.-191A>T
ENST00000457866.6:c.-253A>T	ENSP00000388650.2:n.-253A>T
ENST00000524469.5:c.-191A>T	ENSP00000433063.1:n.-191A>T
ENST00000531527.1:n.22A>T
ENST00000531788.5:c.-253A>T	ENSP00000432167.1:n.-253A>T
NM_001134830.1:c.-191A>T	NP_001128302.1:n.-191A>T
NM_001134831.1:c.-338A>T	NP_001128303.1:n.-338A>T
NM_001134832.1:c.-253A>T	NP_001128304.1:n.-253A>T
NM_017651.4:c.-253A>T	NP_060121.3:n.-253A>T
XM_011535910.1:c.-509A>T	XP_011534212.1:n.-509A>T
XM_011535911.1:c.-276A>T	XP_011534213.1:n.-276A>T
XM_011535912.1:c.-253A>T	XP_011534214.1:n.-253A>T
XM_011535913.1:c.-253A>T	XP_011534215.1:n.-253A>T
XM_011535914.1:c.-253A>T	XP_011534216.1:n.-253A>T
XM_011535915.1:c.-253A>T	XP_011534217.1:n.-253A>T
XM_011535916.1:c.-253A>T	XP_011534218.1:n.-253A>T
XR_942488.1:n.41A>T
XR_942489.1:n.41A>T
XR_942490.1:n.41A>T
XR_942491.1:n.41A>T
XR_942493.1:n.41A>T
XR_942494.1:n.41A>T
XR_942495.1:n.41A>T
NM_001350503.1:c.-447A>T	NP_001337432.1:n.-447A>T
NM_001350504.1:c.-338A>T	NP_001337433.1:n.-338A>T
XM_011535910.3:c.-509A>T	XP_011534212.1:n.-509A>T
XM_011535911.3:c.-276A>T	XP_011534213.1:n.-276A>T
XM_017010978.2:c.-338A>T	XP_016866467.1:n.-338A>T
XM_017010979.2:c.-338A>T	XP_016866468.1:n.-338A>T
XM_017010980.2:c.-338A>T	XP_016866469.1:n.-338A>T
XM_017010981.2:c.-338A>T	XP_016866470.1:n.-338A>T
XM_017010984.2:c.-338A>T	XP_016866473.1:n.-338A>T
XM_024446479.1:c.-253A>T	XP_024302247.1:n.-253A>T
XM_024446480.1:c.-338A>T	XP_024302248.1:n.-338A>T
XR_001743479.2:n.53A>T
XR_001743480.2:n.53A>T
XR_001743481.2:n.53A>T
XR_001743482.2:n.53A>T
XR_001743483.2:n.53A>T
XR_001743484.2:n.53A>T
XR_001743485.2:n.53A>T
XR_001743486.2:n.53A>T
XR_001743487.2:n.53A>T
XR_001743488.1:n.20A>T
XR_001743489.2:n.53A>T
XR_001743490.2:n.53A>T
XR_002956286.1:n.53A>T
XR_002956287.1:n.53A>T
NM_001134831.2:c.-338A>T MANE Select	NP_001128303.1:n.-338A>T
NM_001134830.2:c.-191A>T	NP_001128302.1:n.-191A>T
NM_001134832.2:c.-253A>T	NP_001128304.1:n.-253A>T
NM_001350503.2:c.-447A>T	NP_001337432.1:n.-447A>T
NM_001350504.2:c.-338A>T	NP_001337433.1:n.-338A>T
NM_017651.5:c.-253A>T	NP_060121.3:n.-253A>T