Canonical Allele Identifier: CA1129697754

Gene: AK8

Linked Data

• gnomAD v3: 9-132742941-T-C
• gnomAD v4: 9-132742941-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132742941T>C , CM000671.2:g.132742941T>C	GRCh38
NC_000009.11:g.135618328T>C , CM000671.1:g.135618328T>C	GRCh37
NC_000009.10:g.134608149T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000298545.4:c.1122-15407A>G MANE Select	ENSP00000298545.3:n.1122-15407A>G
ENST00000298545.3:c.1122-15407A>G	ENSP00000298545.3:n.1122-15407A>G
ENST00000476719.1:n.1559-15407A>G
ENST00000477396.5:n.2037-15407A>G
NM_152572.2:c.1122-15407A>G	NP_689785.1:n.1122-15407A>G
XM_005272169.2:c.1158-15407A>G	XP_005272226.1:n.1158-15407A>G
XM_006716964.2:c.987-15407A>G	XP_006717027.1:n.987-15407A>G
XM_006716965.2:c.906-15407A>G	XP_006717028.1:n.906-15407A>G
XM_011518278.1:c.900-15407A>G	XP_011516580.1:n.900-15407A>G
XM_011518279.1:c.606-15407A>G	XP_011516581.1:n.606-15407A>G
XM_011518280.1:c.510-15407A>G	XP_011516582.1:n.510-15407A>G
XR_929719.1:n.1075-15407A>G
NM_001317958.1:c.510-15407A>G	NP_001304887.1:n.510-15407A>G
NM_001317959.1:c.606-15407A>G	NP_001304888.1:n.606-15407A>G
XM_011518278.2:c.900-15407A>G	XP_011516580.1:n.900-15407A>G
XM_017014308.1:c.606-15407A>G	XP_016869797.1:n.606-15407A>G
XM_024447419.1:c.510-15407A>G	XP_024303187.1:n.510-15407A>G
XM_024447420.1:c.510-15407A>G	XP_024303188.1:n.510-15407A>G
XR_929719.2:n.1075-15407A>G
NM_001317958.2:c.510-15407A>G	NP_001304887.1:n.510-15407A>G
NM_001317959.2:c.606-15407A>G	NP_001304888.1:n.606-15407A>G
NM_001371771.1:c.1035-15407A>G	NP_001358700.1:n.1035-15407A>G
NM_001371772.1:c.987-15407A>G	NP_001358701.1:n.987-15407A>G
NM_001371773.1:c.510-15407A>G	NP_001358702.1:n.510-15407A>G
NM_001371774.1:c.510-15407A>G	NP_001358703.1:n.510-15407A>G
NM_152572.3:c.1122-15407A>G MANE Select	NP_689785.1:n.1122-15407A>G