Canonical Allele Identifier: CA467224087

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630681G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868402G>A , CM000671.2:g.127868402G>A	GRCh38
NC_000009.11:g.130630681G>A , CM000671.1:g.130630681G>A	GRCh37
NC_000009.10:g.129670502G>A	NCBI36
NG_011792.1:g.14342C>T
NG_011792.2:g.14342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.935C>T
ENST00000643029.1:c.*2110C>T	ENSP00000496586.1:n.*2110C>T
ENST00000643338.1:c.*1999C>T	ENSP00000495890.1:n.*1999C>T
ENST00000644144.2:c.435C>T MANE Select	ENSP00000494600.1:p.Thr145=
ENST00000645007.1:c.*2359C>T	ENSP00000494773.1:n.*2359C>T
ENST00000646171.1:c.*468C>T	ENSP00000495484.1:n.*468C>T
ENST00000223836.10:c.483C>T	ENSP00000223836.10:p.Thr161=
ENST00000373156.5:c.435C>T	ENSP00000362249.1:p.Thr145=
ENST00000373176.5:c.435C>T	ENSP00000362271.1:p.Thr145=
ENST00000413016.5:c.257C>T
ENST00000550143.5:c.215C>T	ENSP00000449130.1:n.215C>T
NM_000476.2:c.435C>T	NP_000467.1:p.Thr145=
XM_005251786.2:c.483C>T	XP_005251843.1:p.Thr161=
XM_011518348.1:c.435C>T	XP_011516650.1:p.Thr145=
XM_011518349.1:c.255C>T	XP_011516651.1:p.Thr85=
NM_001318121.1:c.435C>T	NP_001305050.1:p.Thr145=
NM_001318122.1:c.483C>T	NP_001305051.1:p.Thr161=
XM_017014428.1:c.435C>T	XP_016869917.1:p.Thr145=
XM_024447439.1:c.414C>T	XP_024303207.1:p.Thr138=
XM_024447440.1:c.255C>T	XP_024303208.1:p.Thr85=
NM_001318122.2:c.483C>T	NP_001305051.1:p.Thr161=
NM_000476.3:c.435C>T MANE Select	NP_000467.1:p.Thr145=
NR_174625.1:n.3754C>T
NR_174626.1:n.3597C>T
NR_174627.1:n.3634C>T
NR_174628.1:n.3012C>T
NR_174629.1:n.2957C>T
NR_174630.1:n.2993C>T
NR_174631.1:n.2938C>T
NR_174632.1:n.3027C>T