Canonical Allele Identifier: CA374947714

Gene: AK1

Linked Data

• gnomAD v4: 9-127868482-C-A
• MyVariant Identifiers: chr9:g.130630761C>A (hg19) ; chr9:g.127868482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868482C>A , CM000671.2:g.127868482C>A	GRCh38
NC_000009.11:g.130630761C>A , CM000671.1:g.130630761C>A	GRCh37
NC_000009.10:g.129670582C>A	NCBI36
NG_011792.1:g.14262G>T
NG_011792.2:g.14262G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.855G>T
ENST00000643029.1:c.*2030G>T	ENSP00000496586.1:n.*2030G>T
ENST00000643338.1:c.*1919G>T	ENSP00000495890.1:n.*1919G>T
ENST00000644144.2:c.355G>T MANE Select	ENSP00000494600.1:p.Asp119Tyr
ENST00000645007.1:c.*2279G>T	ENSP00000494773.1:n.*2279G>T
ENST00000646171.1:c.*388G>T	ENSP00000495484.1:n.*388G>T
ENST00000223836.10:c.403G>T	ENSP00000223836.10:p.Asp135Tyr
ENST00000373156.5:c.355G>T	ENSP00000362249.1:p.Asp119Tyr
ENST00000373176.5:c.355G>T	ENSP00000362271.1:p.Asp119Tyr
ENST00000413016.5:c.177G>T
ENST00000550143.5:c.142-7G>T	ENSP00000449130.1:n.142-7G>T
ENST00000550992.1:c.*375G>T	ENSP00000448741.1:n.*375G>T
NM_000476.2:c.355G>T	NP_000467.1:p.Asp119Tyr
XM_005251786.2:c.403G>T	XP_005251843.1:p.Asp135Tyr
XM_011518348.1:c.355G>T	XP_011516650.1:p.Asp119Tyr
XM_011518349.1:c.175G>T	XP_011516651.1:p.Asp59Tyr
NM_001318121.1:c.355G>T	NP_001305050.1:p.Asp119Tyr
NM_001318122.1:c.403G>T	NP_001305051.1:p.Asp135Tyr
XM_017014428.1:c.355G>T	XP_016869917.1:p.Asp119Tyr
XM_024447439.1:c.334G>T	XP_024303207.1:p.Asp112Tyr
XM_024447440.1:c.175G>T	XP_024303208.1:p.Asp59Tyr
NM_001318122.2:c.403G>T	NP_001305051.1:p.Asp135Tyr
NM_000476.3:c.355G>T MANE Select	NP_000467.1:p.Asp119Tyr
NR_174625.1:n.3674G>T
NR_174626.1:n.3524-7G>T
NR_174627.1:n.3554G>T
NR_174628.1:n.2932G>T
NR_174629.1:n.2877G>T
NR_174630.1:n.2913G>T
NR_174631.1:n.2858G>T
NR_174632.1:n.2947G>T