Canonical Allele Identifier: CA374946844

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630626A>G (hg19) ; chr9:g.127868347A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868347A>G , CM000671.2:g.127868347A>G	GRCh38
NC_000009.11:g.130630626A>G , CM000671.1:g.130630626A>G	GRCh37
NC_000009.10:g.129670447A>G	NCBI36
NG_011792.1:g.14397T>C
NG_011792.2:g.14397T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.990T>C
ENST00000643029.1:c.*2165T>C	ENSP00000496586.1:n.*2165T>C
ENST00000643338.1:c.*2054T>C	ENSP00000495890.1:n.*2054T>C
ENST00000644144.2:c.490T>C MANE Select	ENSP00000494600.1:p.Tyr164His
ENST00000645007.1:c.*2414T>C	ENSP00000494773.1:n.*2414T>C
ENST00000646171.1:c.*523T>C	ENSP00000495484.1:n.*523T>C
ENST00000223836.10:c.538T>C	ENSP00000223836.10:p.Tyr180His
ENST00000373156.5:c.490T>C	ENSP00000362249.1:p.Tyr164His
ENST00000373176.5:c.490T>C	ENSP00000362271.1:p.Tyr164His
ENST00000413016.5:c.312T>C
ENST00000550143.5:c.270T>C	ENSP00000449130.1:n.270T>C
NM_000476.2:c.490T>C	NP_000467.1:p.Tyr164His
XM_005251786.2:c.538T>C	XP_005251843.1:p.Tyr180His
XM_011518348.1:c.490T>C	XP_011516650.1:p.Tyr164His
XM_011518349.1:c.310T>C	XP_011516651.1:p.Tyr104His
NM_001318121.1:c.490T>C	NP_001305050.1:p.Tyr164His
NM_001318122.1:c.538T>C	NP_001305051.1:p.Tyr180His
XM_017014428.1:c.490T>C	XP_016869917.1:p.Tyr164His
XM_024447439.1:c.469T>C	XP_024303207.1:p.Tyr157His
XM_024447440.1:c.310T>C	XP_024303208.1:p.Tyr104His
NM_001318122.2:c.538T>C	NP_001305051.1:p.Tyr180His
NM_000476.3:c.490T>C MANE Select	NP_000467.1:p.Tyr164His
NR_174625.1:n.3809T>C
NR_174626.1:n.3652T>C
NR_174627.1:n.3689T>C
NR_174628.1:n.3067T>C
NR_174629.1:n.3012T>C
NR_174630.1:n.3048T>C
NR_174631.1:n.2993T>C
NR_174632.1:n.3082T>C