Canonical Allele Identifier: CA374947092

Gene: AK1

Linked Data

• gnomAD v4: 9-127868380-A-G
• MyVariant Identifiers: chr9:g.130630659A>G (hg19) ; chr9:g.127868380A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868380A>G , CM000671.2:g.127868380A>G	GRCh38
NC_000009.11:g.130630659A>G , CM000671.1:g.130630659A>G	GRCh37
NC_000009.10:g.129670480A>G	NCBI36
NG_011792.1:g.14364T>C
NG_011792.2:g.14364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.957T>C
ENST00000643029.1:c.*2132T>C	ENSP00000496586.1:n.*2132T>C
ENST00000643338.1:c.*2021T>C	ENSP00000495890.1:n.*2021T>C
ENST00000644144.2:c.457T>C MANE Select	ENSP00000494600.1:p.Tyr153His
ENST00000645007.1:c.*2381T>C	ENSP00000494773.1:n.*2381T>C
ENST00000646171.1:c.*490T>C	ENSP00000495484.1:n.*490T>C
ENST00000223836.10:c.505T>C	ENSP00000223836.10:p.Tyr169His
ENST00000373156.5:c.457T>C	ENSP00000362249.1:p.Tyr153His
ENST00000373176.5:c.457T>C	ENSP00000362271.1:p.Tyr153His
ENST00000413016.5:c.279T>C
ENST00000550143.5:c.237T>C	ENSP00000449130.1:n.237T>C
NM_000476.2:c.457T>C	NP_000467.1:p.Tyr153His
XM_005251786.2:c.505T>C	XP_005251843.1:p.Tyr169His
XM_011518348.1:c.457T>C	XP_011516650.1:p.Tyr153His
XM_011518349.1:c.277T>C	XP_011516651.1:p.Tyr93His
NM_001318121.1:c.457T>C	NP_001305050.1:p.Tyr153His
NM_001318122.1:c.505T>C	NP_001305051.1:p.Tyr169His
XM_017014428.1:c.457T>C	XP_016869917.1:p.Tyr153His
XM_024447439.1:c.436T>C	XP_024303207.1:p.Tyr146His
XM_024447440.1:c.277T>C	XP_024303208.1:p.Tyr93His
NM_001318122.2:c.505T>C	NP_001305051.1:p.Tyr169His
NM_000476.3:c.457T>C MANE Select	NP_000467.1:p.Tyr153His
NR_174625.1:n.3776T>C
NR_174626.1:n.3619T>C
NR_174627.1:n.3656T>C
NR_174628.1:n.3034T>C
NR_174629.1:n.2979T>C
NR_174630.1:n.3015T>C
NR_174631.1:n.2960T>C
NR_174632.1:n.3049T>C