Canonical Allele Identifier: CA467223521

Gene: AK1

Linked Data

• gnomAD v4: 9-127868375-G-A
• MyVariant Identifiers: chr9:g.130630654G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868375G>A , CM000671.2:g.127868375G>A	GRCh38
NC_000009.11:g.130630654G>A , CM000671.1:g.130630654G>A	GRCh37
NC_000009.10:g.129670475G>A	NCBI36
NG_011792.1:g.14369C>T
NG_011792.2:g.14369C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.962C>T
ENST00000643029.1:c.*2137C>T	ENSP00000496586.1:n.*2137C>T
ENST00000643338.1:c.*2026C>T	ENSP00000495890.1:n.*2026C>T
ENST00000644144.2:c.462C>T MANE Select	ENSP00000494600.1:p.Tyr154=
ENST00000645007.1:c.*2386C>T	ENSP00000494773.1:n.*2386C>T
ENST00000646171.1:c.*495C>T	ENSP00000495484.1:n.*495C>T
ENST00000223836.10:c.510C>T	ENSP00000223836.10:p.Tyr170=
ENST00000373156.5:c.462C>T	ENSP00000362249.1:p.Tyr154=
ENST00000373176.5:c.462C>T	ENSP00000362271.1:p.Tyr154=
ENST00000413016.5:c.284C>T
ENST00000550143.5:c.242C>T	ENSP00000449130.1:n.242C>T
NM_000476.2:c.462C>T	NP_000467.1:p.Tyr154=
XM_005251786.2:c.510C>T	XP_005251843.1:p.Tyr170=
XM_011518348.1:c.462C>T	XP_011516650.1:p.Tyr154=
XM_011518349.1:c.282C>T	XP_011516651.1:p.Tyr94=
NM_001318121.1:c.462C>T	NP_001305050.1:p.Tyr154=
NM_001318122.1:c.510C>T	NP_001305051.1:p.Tyr170=
XM_017014428.1:c.462C>T	XP_016869917.1:p.Tyr154=
XM_024447439.1:c.441C>T	XP_024303207.1:p.Tyr147=
XM_024447440.1:c.282C>T	XP_024303208.1:p.Tyr94=
NM_001318122.2:c.510C>T	NP_001305051.1:p.Tyr170=
NM_000476.3:c.462C>T MANE Select	NP_000467.1:p.Tyr154=
NR_174625.1:n.3781C>T
NR_174626.1:n.3624C>T
NR_174627.1:n.3661C>T
NR_174628.1:n.3039C>T
NR_174629.1:n.2984C>T
NR_174630.1:n.3020C>T
NR_174631.1:n.2965C>T
NR_174632.1:n.3054C>T