Canonical Allele Identifier: CA2680454897

Gene: AHI1

Linked Data

• gnomAD v4: 6-135497767-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135497767G>T , CM000668.2:g.135497767G>T	GRCh38
NC_000006.11:g.135818905G>T , CM000668.1:g.135818905G>T	GRCh37
NC_000006.10:g.135860598G>T	NCBI36
NG_008643.1:g.4999C>A
NG_008643.2:g.4999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680033.1:c.-2283C>A	ENSP00000506426.1:n.-2283C>A
ENST00000681022.1:c.-2283C>A	ENSP00000505121.1:n.-2283C>A
ENST00000681340.1:c.-472C>A	ENSP00000505666.1:n.-472C>A
ENST00000681841.1:c.-495C>A	ENSP00000504965.1:n.-495C>A
ENST00000265602.10:c.-386C>A	ENSP00000265602.6:n.-386C>A
XM_011535910.3:c.-557C>A	XP_011534212.1:n.-557C>A
XM_017010978.2:c.-386C>A	XP_016866467.1:n.-386C>A
XM_017010979.2:c.-386C>A	XP_016866468.1:n.-386C>A
XM_017010980.2:c.-386C>A	XP_016866469.1:n.-386C>A
XM_017010981.2:c.-386C>A	XP_016866470.1:n.-386C>A
XM_017010984.2:c.-386C>A	XP_016866473.1:n.-386C>A
XM_024446480.1:c.-386C>A	XP_024302248.1:n.-386C>A
XR_001743479.2:n.5C>A
XR_001743480.2:n.5C>A
XR_001743481.2:n.5C>A
XR_001743482.2:n.5C>A
XR_001743483.2:n.5C>A
XR_001743484.2:n.5C>A
XR_001743485.2:n.5C>A
XR_001743486.2:n.5C>A
XR_001743487.2:n.5C>A
XR_001743489.2:n.5C>A
XR_001743490.2:n.5C>A
XR_002956286.1:n.5C>A
XR_002956287.1:n.5C>A