Canonical Allele Identifier: CA2691812596

Gene: AK1

Linked Data

• gnomAD v4: 9-127868187-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868187G>T , CM000671.2:g.127868187G>T	GRCh38
NC_000009.11:g.130630466G>T , CM000671.1:g.130630466G>T	GRCh37
NC_000009.10:g.129670287G>T	NCBI36
NG_011792.1:g.14557C>A
NG_011792.2:g.14557C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1017-111C>A
ENST00000643029.1:c.*2192-111C>A	ENSP00000496586.1:n.*2192-111C>A
ENST00000643338.1:c.*2081-111C>A	ENSP00000495890.1:n.*2081-111C>A
ENST00000644144.2:c.517-111C>A MANE Select	ENSP00000494600.1:n.517-111C>A
ENST00000645007.1:c.*2441-111C>A	ENSP00000494773.1:n.*2441-111C>A
ENST00000646171.1:c.*550-111C>A	ENSP00000495484.1:n.*550-111C>A
ENST00000223836.10:c.565-111C>A	ENSP00000223836.10:n.565-111C>A
ENST00000373156.5:c.517-111C>A	ENSP00000362249.1:n.517-111C>A
ENST00000373176.5:c.517-111C>A	ENSP00000362271.1:n.517-111C>A
ENST00000413016.5:c.339-111C>A
ENST00000550143.5:c.297-111C>A	ENSP00000449130.1:n.297-111C>A
NM_000476.2:c.517-111C>A	NP_000467.1:n.517-111C>A
XM_005251786.2:c.565-111C>A	XP_005251843.1:n.565-111C>A
XM_011518348.1:c.517-111C>A	XP_011516650.1:n.517-111C>A
XM_011518349.1:c.337-111C>A	XP_011516651.1:n.337-111C>A
NM_001318121.1:c.517-111C>A	NP_001305050.1:n.517-111C>A
NM_001318122.1:c.565-111C>A	NP_001305051.1:n.565-111C>A
XM_017014428.1:c.517-111C>A	XP_016869917.1:n.517-111C>A
XM_024447439.1:c.496-111C>A	XP_024303207.1:n.496-111C>A
XM_024447440.1:c.337-111C>A	XP_024303208.1:n.337-111C>A
NM_001318122.2:c.565-111C>A	NP_001305051.1:n.565-111C>A
NM_000476.3:c.517-111C>A MANE Select	NP_000467.1:n.517-111C>A
NR_174625.1:n.3836-111C>A
NR_174626.1:n.3679-111C>A
NR_174627.1:n.3716-111C>A
NR_174628.1:n.3094-111C>A
NR_174629.1:n.3039-111C>A
NR_174630.1:n.3075-111C>A
NR_174631.1:n.3020-111C>A
NR_174632.1:n.3109-111C>A