Canonical Allele Identifier: CA374947582

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630735C>A (hg19) ; chr9:g.127868456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868456C>A , CM000671.2:g.127868456C>A	GRCh38
NC_000009.11:g.130630735C>A , CM000671.1:g.130630735C>A	GRCh37
NC_000009.10:g.129670556C>A	NCBI36
NG_011792.1:g.14288G>T
NG_011792.2:g.14288G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.881G>T
ENST00000643029.1:c.*2056G>T	ENSP00000496586.1:n.*2056G>T
ENST00000643338.1:c.*1945G>T	ENSP00000495890.1:n.*1945G>T
ENST00000644144.2:c.381G>T MANE Select	ENSP00000494600.1:p.Gln127His
ENST00000645007.1:c.*2305G>T	ENSP00000494773.1:n.*2305G>T
ENST00000646171.1:c.*414G>T	ENSP00000495484.1:n.*414G>T
ENST00000223836.10:c.429G>T	ENSP00000223836.10:p.Gln143His
ENST00000373156.5:c.381G>T	ENSP00000362249.1:p.Gln127His
ENST00000373176.5:c.381G>T	ENSP00000362271.1:p.Gln127His
ENST00000413016.5:c.203G>T
ENST00000550143.5:c.161G>T	ENSP00000449130.1:n.161G>T
NM_000476.2:c.381G>T	NP_000467.1:p.Gln127His
XM_005251786.2:c.429G>T	XP_005251843.1:p.Gln143His
XM_011518348.1:c.381G>T	XP_011516650.1:p.Gln127His
XM_011518349.1:c.201G>T	XP_011516651.1:p.Gln67His
NM_001318121.1:c.381G>T	NP_001305050.1:p.Gln127His
NM_001318122.1:c.429G>T	NP_001305051.1:p.Gln143His
XM_017014428.1:c.381G>T	XP_016869917.1:p.Gln127His
XM_024447439.1:c.360G>T	XP_024303207.1:p.Gln120His
XM_024447440.1:c.201G>T	XP_024303208.1:p.Gln67His
NM_001318122.2:c.429G>T	NP_001305051.1:p.Gln143His
NM_000476.3:c.381G>T MANE Select	NP_000467.1:p.Gln127His
NR_174625.1:n.3700G>T
NR_174626.1:n.3543G>T
NR_174627.1:n.3580G>T
NR_174628.1:n.2958G>T
NR_174629.1:n.2903G>T
NR_174630.1:n.2939G>T
NR_174631.1:n.2884G>T
NR_174632.1:n.2973G>T