Canonical Allele Identifier: CA467224279

Gene: AK1

Linked Data

• dbSNP Id: rs1250521819
• gnomAD v2: 9-130630729-G-C
• gnomAD v4: 9-127868450-G-C
• MyVariant Identifiers: chr9:g.130630729G>C (hg19) ; chr9:g.127868450G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868450G>C , CM000671.2:g.127868450G>C	GRCh38
NC_000009.11:g.130630729G>C , CM000671.1:g.130630729G>C	GRCh37
NC_000009.10:g.129670550G>C	NCBI36
NG_011792.1:g.14294C>G
NG_011792.2:g.14294C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.887C>G
ENST00000643029.1:c.*2062C>G	ENSP00000496586.1:n.*2062C>G
ENST00000643338.1:c.*1951C>G	ENSP00000495890.1:n.*1951C>G
ENST00000644144.2:c.387C>G MANE Select	ENSP00000494600.1:p.Leu129=
ENST00000645007.1:c.*2311C>G	ENSP00000494773.1:n.*2311C>G
ENST00000646171.1:c.*420C>G	ENSP00000495484.1:n.*420C>G
ENST00000223836.10:c.435C>G	ENSP00000223836.10:p.Leu145=
ENST00000373156.5:c.387C>G	ENSP00000362249.1:p.Leu129=
ENST00000373176.5:c.387C>G	ENSP00000362271.1:p.Leu129=
ENST00000413016.5:c.209C>G
ENST00000550143.5:c.167C>G	ENSP00000449130.1:n.167C>G
NM_000476.2:c.387C>G	NP_000467.1:p.Leu129=
XM_005251786.2:c.435C>G	XP_005251843.1:p.Leu145=
XM_011518348.1:c.387C>G	XP_011516650.1:p.Leu129=
XM_011518349.1:c.207C>G	XP_011516651.1:p.Leu69=
NM_001318121.1:c.387C>G	NP_001305050.1:p.Leu129=
NM_001318122.1:c.435C>G	NP_001305051.1:p.Leu145=
XM_017014428.1:c.387C>G	XP_016869917.1:p.Leu129=
XM_024447439.1:c.366C>G	XP_024303207.1:p.Leu122=
XM_024447440.1:c.207C>G	XP_024303208.1:p.Leu69=
NM_001318122.2:c.435C>G	NP_001305051.1:p.Leu145=
NM_000476.3:c.387C>G MANE Select	NP_000467.1:p.Leu129=
NR_174625.1:n.3706C>G
NR_174626.1:n.3549C>G
NR_174627.1:n.3586C>G
NR_174628.1:n.2964C>G
NR_174629.1:n.2909C>G
NR_174630.1:n.2945C>G
NR_174631.1:n.2890C>G
NR_174632.1:n.2979C>G