Canonical Allele Identifier: CA374947638

Gene: AK1

Linked Data

• gnomAD v4: 9-127868463-A-G
• MyVariant Identifiers: chr9:g.130630742A>G (hg19) ; chr9:g.127868463A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868463A>G , CM000671.2:g.127868463A>G	GRCh38
NC_000009.11:g.130630742A>G , CM000671.1:g.130630742A>G	GRCh37
NC_000009.10:g.129670563A>G	NCBI36
NG_011792.1:g.14281T>C
NG_011792.2:g.14281T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.874T>C
ENST00000643029.1:c.*2049T>C	ENSP00000496586.1:n.*2049T>C
ENST00000643338.1:c.*1938T>C	ENSP00000495890.1:n.*1938T>C
ENST00000644144.2:c.374T>C MANE Select	ENSP00000494600.1:p.Met125Thr
ENST00000645007.1:c.*2298T>C	ENSP00000494773.1:n.*2298T>C
ENST00000646171.1:c.*407T>C	ENSP00000495484.1:n.*407T>C
ENST00000223836.10:c.422T>C	ENSP00000223836.10:p.Met141Thr
ENST00000373156.5:c.374T>C	ENSP00000362249.1:p.Met125Thr
ENST00000373176.5:c.374T>C	ENSP00000362271.1:p.Met125Thr
ENST00000413016.5:c.196T>C
ENST00000550143.5:c.154T>C	ENSP00000449130.1:p.Ter52Arg
ENST00000550992.1:c.*394T>C	ENSP00000448741.1:n.*394T>C
NM_000476.2:c.374T>C	NP_000467.1:p.Met125Thr
XM_005251786.2:c.422T>C	XP_005251843.1:p.Met141Thr
XM_011518348.1:c.374T>C	XP_011516650.1:p.Met125Thr
XM_011518349.1:c.194T>C	XP_011516651.1:p.Met65Thr
NM_001318121.1:c.374T>C	NP_001305050.1:p.Met125Thr
NM_001318122.1:c.422T>C	NP_001305051.1:p.Met141Thr
XM_017014428.1:c.374T>C	XP_016869917.1:p.Met125Thr
XM_024447439.1:c.353T>C	XP_024303207.1:p.Met118Thr
XM_024447440.1:c.194T>C	XP_024303208.1:p.Met65Thr
NM_001318122.2:c.422T>C	NP_001305051.1:p.Met141Thr
NM_000476.3:c.374T>C MANE Select	NP_000467.1:p.Met125Thr
NR_174625.1:n.3693T>C
NR_174626.1:n.3536T>C
NR_174627.1:n.3573T>C
NR_174628.1:n.2951T>C
NR_174629.1:n.2896T>C
NR_174630.1:n.2932T>C
NR_174631.1:n.2877T>C
NR_174632.1:n.2966T>C