Canonical Allele Identifier: CA374947814

Gene: AK1

Linked Data

• gnomAD v4: 9-127868503-G-A
• MyVariant Identifiers: chr9:g.130630782G>A (hg19) ; chr9:g.127868503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868503G>A , CM000671.2:g.127868503G>A	GRCh38
NC_000009.11:g.130630782G>A , CM000671.1:g.130630782G>A	GRCh37
NC_000009.10:g.129670603G>A	NCBI36
NG_011792.1:g.14241C>T
NG_011792.2:g.14241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.834C>T
ENST00000643029.1:c.*2009C>T	ENSP00000496586.1:n.*2009C>T
ENST00000643338.1:c.*1898C>T	ENSP00000495890.1:n.*1898C>T
ENST00000644144.2:c.334C>T MANE Select	ENSP00000494600.1:p.Pro112Ser
ENST00000645007.1:c.*2258C>T	ENSP00000494773.1:n.*2258C>T
ENST00000646171.1:c.*367C>T	ENSP00000495484.1:n.*367C>T
ENST00000223836.10:c.382C>T	ENSP00000223836.10:p.Pro128Ser
ENST00000373156.5:c.334C>T	ENSP00000362249.1:p.Pro112Ser
ENST00000373176.5:c.334C>T	ENSP00000362271.1:p.Pro112Ser
ENST00000413016.5:c.156C>T
ENST00000550143.5:c.142-28C>T	ENSP00000449130.1:n.142-28C>T
ENST00000550992.1:c.*354C>T	ENSP00000448741.1:n.*354C>T
NM_000476.2:c.334C>T	NP_000467.1:p.Pro112Ser
XM_005251786.2:c.382C>T	XP_005251843.1:p.Pro128Ser
XM_011518348.1:c.334C>T	XP_011516650.1:p.Pro112Ser
XM_011518349.1:c.154C>T	XP_011516651.1:p.Pro52Ser
NM_001318121.1:c.334C>T	NP_001305050.1:p.Pro112Ser
NM_001318122.1:c.382C>T	NP_001305051.1:p.Pro128Ser
XM_017014428.1:c.334C>T	XP_016869917.1:p.Pro112Ser
XM_024447439.1:c.313C>T	XP_024303207.1:p.Pro105Ser
XM_024447440.1:c.154C>T	XP_024303208.1:p.Pro52Ser
NM_001318122.2:c.382C>T	NP_001305051.1:p.Pro128Ser
NM_000476.3:c.334C>T MANE Select	NP_000467.1:p.Pro112Ser
NR_174625.1:n.3653C>T
NR_174626.1:n.3524-28C>T
NR_174627.1:n.3533C>T
NR_174628.1:n.2911C>T
NR_174629.1:n.2856C>T
NR_174630.1:n.2892C>T
NR_174631.1:n.2837C>T
NR_174632.1:n.2926C>T