Canonical Allele Identifier: CA374947076

Gene: AK1

Linked Data

• gnomAD v4: 9-127868377-A-G
• MyVariant Identifiers: chr9:g.130630656A>G (hg19) ; chr9:g.127868377A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868377A>G , CM000671.2:g.127868377A>G	GRCh38
NC_000009.11:g.130630656A>G , CM000671.1:g.130630656A>G	GRCh37
NC_000009.10:g.129670477A>G	NCBI36
NG_011792.1:g.14367T>C
NG_011792.2:g.14367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.960T>C
ENST00000643029.1:c.*2135T>C	ENSP00000496586.1:n.*2135T>C
ENST00000643338.1:c.*2024T>C	ENSP00000495890.1:n.*2024T>C
ENST00000644144.2:c.460T>C MANE Select	ENSP00000494600.1:p.Tyr154His
ENST00000645007.1:c.*2384T>C	ENSP00000494773.1:n.*2384T>C
ENST00000646171.1:c.*493T>C	ENSP00000495484.1:n.*493T>C
ENST00000223836.10:c.508T>C	ENSP00000223836.10:p.Tyr170His
ENST00000373156.5:c.460T>C	ENSP00000362249.1:p.Tyr154His
ENST00000373176.5:c.460T>C	ENSP00000362271.1:p.Tyr154His
ENST00000413016.5:c.282T>C
ENST00000550143.5:c.240T>C	ENSP00000449130.1:n.240T>C
NM_000476.2:c.460T>C	NP_000467.1:p.Tyr154His
XM_005251786.2:c.508T>C	XP_005251843.1:p.Tyr170His
XM_011518348.1:c.460T>C	XP_011516650.1:p.Tyr154His
XM_011518349.1:c.280T>C	XP_011516651.1:p.Tyr94His
NM_001318121.1:c.460T>C	NP_001305050.1:p.Tyr154His
NM_001318122.1:c.508T>C	NP_001305051.1:p.Tyr170His
XM_017014428.1:c.460T>C	XP_016869917.1:p.Tyr154His
XM_024447439.1:c.439T>C	XP_024303207.1:p.Tyr147His
XM_024447440.1:c.280T>C	XP_024303208.1:p.Tyr94His
NM_001318122.2:c.508T>C	NP_001305051.1:p.Tyr170His
NM_000476.3:c.460T>C MANE Select	NP_000467.1:p.Tyr154His
NR_174625.1:n.3779T>C
NR_174626.1:n.3622T>C
NR_174627.1:n.3659T>C
NR_174628.1:n.3037T>C
NR_174629.1:n.2982T>C
NR_174630.1:n.3018T>C
NR_174631.1:n.2963T>C
NR_174632.1:n.3052T>C