Canonical Allele Identifier: CA369546938

Gene: AGK

Linked Data

• ClinVar Variation Id: 523069
• ClinVar RCV Id: RCV000626278
• dbSNP Id: rs1376867262
• gnomAD v2: 7-141301006-A-G
• gnomAD v4: 7-141601206-A-G
• MyVariant Identifiers: chr7:g.141301006A>G (hg19) ; chr7:g.141601206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141601206A>G , CM000669.2:g.141601206A>G	GRCh38
NC_000007.13:g.141301006A>G , CM000669.1:g.141301006A>G	GRCh37
NC_000007.12:g.140947475A>G	NCBI36
NG_032079.1:g.54929A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647568.1:c.223A>G	ENSP00000497039.1:p.Lys75Glu
ENST00000647898.1:n.113A>G
ENST00000648068.1:c.223A>G	ENSP00000498112.1:p.Lys75Glu
ENST00000648395.1:c.-54A>G	ENSP00000497666.1:n.-54A>G
ENST00000648489.1:n.254A>G
ENST00000648690.1:c.-54A>G	ENSP00000497945.1:n.-54A>G
ENST00000649014.1:c.223A>G	ENSP00000497984.1:p.Lys75Glu
ENST00000649286.2:c.223A>G MANE Select	ENSP00000497280.1:p.Lys75Glu
ENST00000649365.1:c.*231A>G	ENSP00000496835.1:n.*231A>G
ENST00000649538.1:n.251A>G
ENST00000649790.1:c.-54A>G	ENSP00000498193.1:n.-54A>G
ENST00000649914.1:c.211A>G	ENSP00000497848.1:p.Lys71Glu
ENST00000650006.1:c.223A>G	ENSP00000497457.1:p.Lys75Glu
ENST00000650365.1:c.*108A>G	ENSP00000497358.1:n.*108A>G
ENST00000650547.1:c.223A>G	ENSP00000496789.1:p.Lys75Glu
ENST00000355413.8:c.223A>G	ENSP00000347581.4:p.Lys75Glu
ENST00000465241.5:n.234A>G
ENST00000473247.5:c.139A>G	ENSP00000420776.1:p.Lys47Glu
ENST00000473884.5:c.*42A>G	ENSP00000420540.1:n.*42A>G
ENST00000494688.1:c.222-8A>G	ENSP00000418101.1:n.222-8A>G
ENST00000629555.2:c.222-8A>G	ENSP00000487274.1:n.222-8A>G
NM_018238.3:c.223A>G	NP_060708.1:p.Lys75Glu
XM_005250023.3:c.223A>G	XP_005250080.1:p.Lys75Glu
XM_011516397.1:c.223A>G	XP_011514699.1:p.Lys75Glu
NM_001364948.1:c.223A>G	NP_001351877.1:p.Lys75Glu
NM_018238.4:c.223A>G MANE Select	NP_060708.1:p.Lys75Glu
XM_011516397.3:c.223A>G	XP_011514699.1:p.Lys75Glu
XM_024446835.1:c.223A>G	XP_024302603.1:p.Lys75Glu
NM_001364948.2:c.223A>G	NP_001351877.1:p.Lys75Glu
NM_001364948.3:c.223A>G	NP_001351877.1:p.Lys75Glu