Canonical Allele Identifier: CA1665917147

Gene: AHI1

Linked Data

• dbSNP Id: rs1796180325

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135497723A>C , CM000668.2:g.135497723A>C	GRCh38
NC_000006.11:g.135818861A>C , CM000668.1:g.135818861A>C	GRCh37
NC_000006.10:g.135860554A>C	NCBI36
NG_008643.1:g.5043T>G
NG_008643.2:g.5043T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265602.11:c.-342T>G MANE Select	ENSP00000265602.6:n.-342T>G
ENST00000531527.2:n.19T>G
ENST00000679589.1:c.-342T>G	ENSP00000506644.1:n.-342T>G
ENST00000680033.1:c.-2239T>G	ENSP00000506426.1:n.-2239T>G
ENST00000680965.1:c.-513T>G	ENSP00000505398.1:n.-513T>G
ENST00000680968.1:c.-257T>G	ENSP00000505980.1:n.-257T>G
ENST00000681022.1:c.-2239T>G	ENSP00000505121.1:n.-2239T>G
ENST00000681340.1:c.-428T>G	ENSP00000505666.1:n.-428T>G
ENST00000681477.1:c.-195T>G	ENSP00000504989.1:n.-195T>G
ENST00000681596.1:c.-5486T>G	ENSP00000505250.1:n.-5486T>G
ENST00000681718.1:c.-195T>G	ENSP00000505266.1:n.-195T>G
ENST00000681841.1:c.-451T>G	ENSP00000504965.1:n.-451T>G
ENST00000265602.10:c.-342T>G	ENSP00000265602.6:n.-342T>G
ENST00000327035.10:c.-257T>G	ENSP00000322478.6:n.-257T>G
ENST00000367800.8:c.-195T>G	ENSP00000356774.4:n.-195T>G
ENST00000457866.6:c.-257T>G	ENSP00000388650.2:n.-257T>G
ENST00000524469.5:c.-195T>G	ENSP00000433063.1:n.-195T>G
ENST00000531527.1:n.18T>G
ENST00000531788.5:c.-257T>G	ENSP00000432167.1:n.-257T>G
NM_001134830.1:c.-195T>G	NP_001128302.1:n.-195T>G
NM_001134831.1:c.-342T>G	NP_001128303.1:n.-342T>G
NM_001134832.1:c.-257T>G	NP_001128304.1:n.-257T>G
NM_017651.4:c.-257T>G	NP_060121.3:n.-257T>G
XM_011535910.1:c.-513T>G	XP_011534212.1:n.-513T>G
XM_011535911.1:c.-280T>G	XP_011534213.1:n.-280T>G
XM_011535912.1:c.-257T>G	XP_011534214.1:n.-257T>G
XM_011535913.1:c.-257T>G	XP_011534215.1:n.-257T>G
XM_011535914.1:c.-257T>G	XP_011534216.1:n.-257T>G
XM_011535915.1:c.-257T>G	XP_011534217.1:n.-257T>G
XM_011535916.1:c.-257T>G	XP_011534218.1:n.-257T>G
XR_942488.1:n.37T>G
XR_942489.1:n.37T>G
XR_942490.1:n.37T>G
XR_942491.1:n.37T>G
XR_942493.1:n.37T>G
XR_942494.1:n.37T>G
XR_942495.1:n.37T>G
NM_001350503.1:c.-451T>G	NP_001337432.1:n.-451T>G
NM_001350504.1:c.-342T>G	NP_001337433.1:n.-342T>G
XM_011535910.3:c.-513T>G	XP_011534212.1:n.-513T>G
XM_011535911.3:c.-280T>G	XP_011534213.1:n.-280T>G
XM_017010978.2:c.-342T>G	XP_016866467.1:n.-342T>G
XM_017010979.2:c.-342T>G	XP_016866468.1:n.-342T>G
XM_017010980.2:c.-342T>G	XP_016866469.1:n.-342T>G
XM_017010981.2:c.-342T>G	XP_016866470.1:n.-342T>G
XM_017010984.2:c.-342T>G	XP_016866473.1:n.-342T>G
XM_024446479.1:c.-257T>G	XP_024302247.1:n.-257T>G
XM_024446480.1:c.-342T>G	XP_024302248.1:n.-342T>G
XR_001743479.2:n.49T>G
XR_001743480.2:n.49T>G
XR_001743481.2:n.49T>G
XR_001743482.2:n.49T>G
XR_001743483.2:n.49T>G
XR_001743484.2:n.49T>G
XR_001743485.2:n.49T>G
XR_001743486.2:n.49T>G
XR_001743487.2:n.49T>G
XR_001743488.1:n.16T>G
XR_001743489.2:n.49T>G
XR_001743490.2:n.49T>G
XR_002956286.1:n.49T>G
XR_002956287.1:n.49T>G
NM_001134831.2:c.-342T>G MANE Select	NP_001128303.1:n.-342T>G
NM_001134830.2:c.-195T>G	NP_001128302.1:n.-195T>G
NM_001134832.2:c.-257T>G	NP_001128304.1:n.-257T>G
NM_001350503.2:c.-451T>G	NP_001337432.1:n.-451T>G
NM_001350504.2:c.-342T>G	NP_001337433.1:n.-342T>G
NM_017651.5:c.-257T>G	NP_060121.3:n.-257T>G