Canonical Allele Identifier: CA369549496

Gene: AGK

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141611231C>A , CM000669.2:g.141611231C>A	GRCh38
NC_000007.13:g.141311031C>A , CM000669.1:g.141311031C>A	GRCh37
NC_000007.12:g.140957500C>A	NCBI36
NG_032079.1:g.64954C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.334C>A	ENSP00000497039.1:p.Leu112Met
ENST00000647898.1:n.224C>A
ENST00000648068.1:c.334C>A	ENSP00000498112.1:p.Leu112Met
ENST00000648395.1:c.58C>A	ENSP00000497666.1:p.Leu20Met
ENST00000648489.1:n.365C>A
ENST00000648690.1:c.58C>A	ENSP00000497945.1:p.Leu20Met
ENST00000649014.1:c.334C>A	ENSP00000497984.1:p.Leu112Met
ENST00000649286.2:c.334C>A MANE Select	ENSP00000497280.1:p.Leu112Met
ENST00000649365.1:c.*342C>A	ENSP00000496835.1:n.*342C>A
ENST00000649538.1:n.362C>A
ENST00000649790.1:c.58C>A	ENSP00000498193.1:p.Leu20Met
ENST00000649914.1:c.322C>A	ENSP00000497848.1:p.Leu108Met
ENST00000650006.1:c.334C>A	ENSP00000497457.1:p.Leu112Met
ENST00000650365.1:c.*219C>A	ENSP00000497358.1:n.*219C>A
ENST00000650547.1:c.334C>A	ENSP00000496789.1:p.Leu112Met
ENST00000355413.8:c.334C>A	ENSP00000347581.4:p.Leu112Met
ENST00000465241.5:n.345C>A
ENST00000473247.5:c.250C>A	ENSP00000420776.1:p.Leu84Met
ENST00000473884.5:c.*153C>A	ENSP00000420540.1:n.*153C>A
ENST00000494688.1:c.325C>A	ENSP00000418101.1:p.Leu109Met
ENST00000496273.1:n.97C>A
ENST00000629555.2:c.325C>A	ENSP00000487274.1:p.Leu109Met
NM_018238.3:c.334C>A	NP_060708.1:p.Leu112Met
XM_005250023.3:c.334C>A	XP_005250080.1:p.Leu112Met
XM_011516397.1:c.334C>A	XP_011514699.1:p.Leu112Met
NM_001364948.1:c.334C>A	NP_001351877.1:p.Leu112Met
NM_018238.4:c.334C>A MANE Select	NP_060708.1:p.Leu112Met
XM_011516397.3:c.334C>A	XP_011514699.1:p.Leu112Met
XM_024446835.1:c.334C>A	XP_024302603.1:p.Leu112Met
NM_001364948.2:c.334C>A	NP_001351877.1:p.Leu112Met
NM_001364948.3:c.334C>A	NP_001351877.1:p.Leu112Met