Canonical Allele Identifier: CA374946717

Gene: AK1

Linked Data

• gnomAD v4: 9-127868337-C-A
• MyVariant Identifiers: chr9:g.130630616C>A (hg19) ; chr9:g.127868337C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868337C>A , CM000671.2:g.127868337C>A	GRCh38
NC_000009.11:g.130630616C>A , CM000671.1:g.130630616C>A	GRCh37
NC_000009.10:g.129670437C>A	NCBI36
NG_011792.1:g.14407G>T
NG_011792.2:g.14407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1000G>T
ENST00000643029.1:c.*2175G>T	ENSP00000496586.1:n.*2175G>T
ENST00000643338.1:c.*2064G>T	ENSP00000495890.1:n.*2064G>T
ENST00000644144.2:c.500G>T MANE Select	ENSP00000494600.1:p.Arg167Leu
ENST00000645007.1:c.*2424G>T	ENSP00000494773.1:n.*2424G>T
ENST00000646171.1:c.*533G>T	ENSP00000495484.1:n.*533G>T
ENST00000223836.10:c.548G>T	ENSP00000223836.10:p.Arg183Leu
ENST00000373156.5:c.500G>T	ENSP00000362249.1:p.Arg167Leu
ENST00000373176.5:c.500G>T	ENSP00000362271.1:p.Arg167Leu
ENST00000413016.5:c.322G>T
ENST00000550143.5:c.280G>T	ENSP00000449130.1:n.280G>T
NM_000476.2:c.500G>T	NP_000467.1:p.Arg167Leu
XM_005251786.2:c.548G>T	XP_005251843.1:p.Arg183Leu
XM_011518348.1:c.500G>T	XP_011516650.1:p.Arg167Leu
XM_011518349.1:c.320G>T	XP_011516651.1:p.Arg107Leu
NM_001318121.1:c.500G>T	NP_001305050.1:p.Arg167Leu
NM_001318122.1:c.548G>T	NP_001305051.1:p.Arg183Leu
XM_017014428.1:c.500G>T	XP_016869917.1:p.Arg167Leu
XM_024447439.1:c.479G>T	XP_024303207.1:p.Arg160Leu
XM_024447440.1:c.320G>T	XP_024303208.1:p.Arg107Leu
NM_001318122.2:c.548G>T	NP_001305051.1:p.Arg183Leu
NM_000476.3:c.500G>T MANE Select	NP_000467.1:p.Arg167Leu
NR_174625.1:n.3819G>T
NR_174626.1:n.3662G>T
NR_174627.1:n.3699G>T
NR_174628.1:n.3077G>T
NR_174629.1:n.3022G>T
NR_174630.1:n.3058G>T
NR_174631.1:n.3003G>T
NR_174632.1:n.3092G>T