Canonical Allele Identifier: CA12972119

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127871625T>G , CM000671.2:g.127871625T>G	GRCh38
NC_000009.11:g.130633904T>G , CM000671.1:g.130633904T>G	GRCh37
NC_000009.10:g.129673725T>G	NCBI36
NG_011792.1:g.11119A>C
NG_011792.2:g.11119A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000476.3:c.324+198A>C MANE Select	NP_000467.1:n.324+198A>C
ENST00000644144.2:c.324+198A>C MANE Select	ENSP00000494600.1:n.324+198A>C
NM_000476.2:c.324+198A>C	NP_000467.1:n.324+198A>C
NM_001318121.1:c.324+198A>C	NP_001305050.1:n.324+198A>C
NM_001318122.1:c.372+198A>C	NP_001305051.1:n.372+198A>C
NM_001318122.2:c.372+198A>C	NP_001305051.1:n.372+198A>C
NR_174625.1:n.3643+198A>C
NR_174626.1:n.3523+198A>C
NR_174627.1:n.3523+198A>C
NR_174628.1:n.2901+198A>C
NR_174629.1:n.2846+198A>C
NR_174630.1:n.2882+198A>C
NR_174631.1:n.2827+198A>C
NR_174632.1:n.2916+198A>C
ENST00000223836.10:c.372+198A>C	ENSP00000223836.10:n.372+198A>C
ENST00000373156.5:c.324+198A>C	ENSP00000362249.1:n.324+198A>C
ENST00000373176.5:c.324+198A>C	ENSP00000362271.1:n.324+198A>C
ENST00000413016.5:c.146+198A>C
ENST00000476274.7:n.824+198A>C
ENST00000550143.5:c.141+198A>C	ENSP00000449130.1:n.141+198A>C
ENST00000550992.1:c.*344+198A>C	ENSP00000448741.1:n.*344+198A>C
ENST00000643029.1:c.*1999+198A>C	ENSP00000496586.1:n.*1999+198A>C
ENST00000643338.1:c.*1888+198A>C	ENSP00000495890.1:n.*1888+198A>C
ENST00000645007.1:c.*2248+198A>C	ENSP00000494773.1:n.*2248+198A>C
ENST00000646171.1:c.*357+198A>C	ENSP00000495484.1:n.*357+198A>C
XM_005251786.2:c.372+198A>C	XP_005251843.1:n.372+198A>C
XM_011518348.1:c.324+198A>C	XP_011516650.1:n.324+198A>C
XM_011518349.1:c.144+198A>C	XP_011516651.1:n.144+198A>C
XM_017014428.1:c.324+198A>C	XP_016869917.1:n.324+198A>C
XM_024447439.1:c.303+198A>C	XP_024303207.1:n.303+198A>C
XM_024447440.1:c.144+198A>C	XP_024303208.1:n.144+198A>C