Canonical Allele Identifier: CA12246025

Gene: AK9

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.109686444A>G , CM000668.2:g.109686444A>G	GRCh38
NC_000006.11:g.110007647A>G , CM000668.1:g.110007647A>G	GRCh37
NC_000006.10:g.110114340A>G	NCBI36
NG_007977.1:g.224A>G , LRG_241:g.224A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000424296.7:c.-12+4703T>C MANE Select	ENSP00000410186.2:n.-12+4703T>C
ENST00000285397.9:c.-12+4703T>C	ENSP00000285397.4:n.-12+4703T>C
ENST00000368948.6:c.-12+4703T>C	ENSP00000357944.2:n.-12+4703T>C
ENST00000424296.6:c.-12+4703T>C	ENSP00000410186.2:n.-12+4703T>C
ENST00000448084.6:c.-115+4028T>C	ENSP00000407510.2:n.-115+4028T>C
ENST00000532976.1:c.-12+4028T>C	ENSP00000436325.1:n.-12+4028T>C
NM_001145128.2:c.-12+4703T>C	NP_001138600.2:n.-12+4703T>C
NM_145025.4:c.-12+4703T>C	NP_659462.1:n.-12+4703T>C
XM_006715376.2:c.-12-384T>C	XP_006715439.2:n.-12-384T>C
XM_011535550.1:c.-12-384T>C	XP_011533852.1:n.-12-384T>C
XM_011535551.1:c.-12-384T>C	XP_011533853.1:n.-12-384T>C
XM_011535552.1:c.-12+4703T>C	XP_011533854.1:n.-12+4703T>C
XM_011535553.1:c.-12+4028T>C	XP_011533855.1:n.-12+4028T>C
XM_011535554.1:c.-12-384T>C	XP_011533856.1:n.-12-384T>C
XM_011535555.1:c.-12-384T>C	XP_011533857.1:n.-12-384T>C
XM_011535556.1:c.-12-384T>C	XP_011533858.1:n.-12-384T>C
XM_011535557.1:c.-12-384T>C	XP_011533859.1:n.-12-384T>C
XM_011535559.1:c.-12-384T>C	XP_011533861.1:n.-12-384T>C
XR_942337.1:n.674-384T>C
XR_942338.1:n.674-384T>C
NM_001329602.1:c.-12+4028T>C	NP_001316531.1:n.-12+4028T>C
NM_001329603.1:c.-12-384T>C	NP_001316532.1:n.-12-384T>C
NR_138057.1:n.741+4028T>C
XM_006715376.3:c.-12-384T>C	XP_006715439.2:n.-12-384T>C
XM_011535550.2:c.-12-384T>C	XP_011533852.1:n.-12-384T>C
XM_011535552.3:c.-12+4703T>C	XP_011533854.1:n.-12+4703T>C
XM_011535553.3:c.-12+4028T>C	XP_011533855.1:n.-12+4028T>C
XM_011535554.2:c.-12-384T>C	XP_011533856.1:n.-12-384T>C
XM_011535555.2:c.-12-384T>C	XP_011533857.1:n.-12-384T>C
XM_011535556.3:c.-12-384T>C	XP_011533858.1:n.-12-384T>C
XM_011535559.3:c.-12-384T>C	XP_011533861.1:n.-12-384T>C
XM_017010384.1:c.-12-384T>C	XP_016865873.1:n.-12-384T>C
XM_017010385.2:c.-672+4703T>C	XP_016865874.1:n.-672+4703T>C
XM_017010386.1:c.-12-384T>C	XP_016865875.1:n.-12-384T>C
XM_017010387.2:c.-2068+4703T>C	XP_016865876.1:n.-2068+4703T>C
XM_017010388.2:c.-12-384T>C	XP_016865877.1:n.-12-384T>C
XM_024446350.1:c.-396T>C	XP_024302118.1:n.-396T>C
XR_942337.2:n.715-384T>C
NM_001145128.3:c.-12+4703T>C MANE Select	NP_001138600.2:n.-12+4703T>C
NM_001329602.2:c.-12+4028T>C	NP_001316531.1:n.-12+4028T>C
NM_001329603.2:c.-12-384T>C	NP_001316532.1:n.-12-384T>C
NM_145025.5:c.-12+4703T>C	NP_659462.1:n.-12+4703T>C
NR_138057.2:n.731+4028T>C