Canonical Allele Identifier: CA200287112

Gene: AK1

Linked Data

• dbSNP Id: rs1037443872
• gnomAD v2: 9-130630727-A-G
• gnomAD v3: 9-127868448-A-G
• gnomAD v4: 9-127868448-A-G
• MyVariant Identifiers: chr9:g.130630727A>G (hg19) ; chr9:g.127868448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868448A>G , CM000671.2:g.127868448A>G	GRCh38
NC_000009.11:g.130630727A>G , CM000671.1:g.130630727A>G	GRCh37
NC_000009.10:g.129670548A>G	NCBI36
NG_011792.1:g.14296T>C
NG_011792.2:g.14296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.889T>C
ENST00000643029.1:c.*2064T>C	ENSP00000496586.1:n.*2064T>C
ENST00000643338.1:c.*1953T>C	ENSP00000495890.1:n.*1953T>C
ENST00000644144.2:c.389T>C MANE Select	ENSP00000494600.1:p.Leu130Ser
ENST00000645007.1:c.*2313T>C	ENSP00000494773.1:n.*2313T>C
ENST00000646171.1:c.*422T>C	ENSP00000495484.1:n.*422T>C
ENST00000223836.10:c.437T>C	ENSP00000223836.10:p.Leu146Ser
ENST00000373156.5:c.389T>C	ENSP00000362249.1:p.Leu130Ser
ENST00000373176.5:c.389T>C	ENSP00000362271.1:p.Leu130Ser
ENST00000413016.5:c.211T>C
ENST00000550143.5:c.169T>C	ENSP00000449130.1:n.169T>C
NM_000476.2:c.389T>C	NP_000467.1:p.Leu130Ser
XM_005251786.2:c.437T>C	XP_005251843.1:p.Leu146Ser
XM_011518348.1:c.389T>C	XP_011516650.1:p.Leu130Ser
XM_011518349.1:c.209T>C	XP_011516651.1:p.Leu70Ser
NM_001318121.1:c.389T>C	NP_001305050.1:p.Leu130Ser
NM_001318122.1:c.437T>C	NP_001305051.1:p.Leu146Ser
XM_017014428.1:c.389T>C	XP_016869917.1:p.Leu130Ser
XM_024447439.1:c.368T>C	XP_024303207.1:p.Leu123Ser
XM_024447440.1:c.209T>C	XP_024303208.1:p.Leu70Ser
NM_001318122.2:c.437T>C	NP_001305051.1:p.Leu146Ser
NM_000476.3:c.389T>C MANE Select	NP_000467.1:p.Leu130Ser
NR_174625.1:n.3708T>C
NR_174626.1:n.3551T>C
NR_174627.1:n.3588T>C
NR_174628.1:n.2966T>C
NR_174629.1:n.2911T>C
NR_174630.1:n.2947T>C
NR_174631.1:n.2892T>C
NR_174632.1:n.2981T>C