Canonical Allele Identifier: CA1129707248

Gene: AK8

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132771634C>G , CM000671.2:g.132771634C>G	GRCh38
NC_000009.11:g.135647021C>G , CM000671.1:g.135647021C>G	GRCh37
NC_000009.10:g.134636842C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298545.4:c.1121+21000G>C MANE Select	ENSP00000298545.3:n.1121+21000G>C
ENST00000298545.3:c.1121+21000G>C	ENSP00000298545.3:n.1121+21000G>C
ENST00000476719.1:n.1558+21000G>C
ENST00000477396.5:n.2036+21000G>C
NM_152572.2:c.1121+21000G>C	NP_689785.1:n.1121+21000G>C
XM_005272169.2:c.1157+21000G>C	XP_005272226.1:n.1157+21000G>C
XM_006716964.2:c.986+21000G>C	XP_006717027.1:n.986+21000G>C
XM_006716965.2:c.905+21000G>C	XP_006717028.1:n.905+21000G>C
XM_011518278.1:c.899+21000G>C	XP_011516580.1:n.899+21000G>C
XM_011518279.1:c.605+21000G>C	XP_011516581.1:n.605+21000G>C
XM_011518280.1:c.509+21000G>C	XP_011516582.1:n.509+21000G>C
XR_929719.1:n.1074+43004G>C
NM_001317958.1:c.509+21000G>C	NP_001304887.1:n.509+21000G>C
NM_001317959.1:c.605+21000G>C	NP_001304888.1:n.605+21000G>C
XM_011518278.2:c.899+21000G>C	XP_011516580.1:n.899+21000G>C
XM_017014308.1:c.605+21000G>C	XP_016869797.1:n.605+21000G>C
XM_024447419.1:c.509+21000G>C	XP_024303187.1:n.509+21000G>C
XM_024447420.1:c.509+21000G>C	XP_024303188.1:n.509+21000G>C
XR_929719.2:n.1074+43004G>C
NM_001317958.2:c.509+21000G>C	NP_001304887.1:n.509+21000G>C
NM_001317959.2:c.605+21000G>C	NP_001304888.1:n.605+21000G>C
NM_001371771.1:c.1034+21000G>C	NP_001358700.1:n.1034+21000G>C
NM_001371772.1:c.986+21000G>C	NP_001358701.1:n.986+21000G>C
NM_001371773.1:c.509+21000G>C	NP_001358702.1:n.509+21000G>C
NM_001371774.1:c.509+21000G>C	NP_001358703.1:n.509+21000G>C
NM_152572.3:c.1121+21000G>C MANE Select	NP_689785.1:n.1121+21000G>C