Canonical Allele Identifier: CA369549541

Gene: AGK

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141611237G>T , CM000669.2:g.141611237G>T	GRCh38
NC_000007.13:g.141311037G>T , CM000669.1:g.141311037G>T	GRCh37
NC_000007.12:g.140957506G>T	NCBI36
NG_032079.1:g.64960G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.340G>T	ENSP00000497039.1:p.Glu114Ter
ENST00000647898.1:n.230G>T
ENST00000648068.1:c.340G>T	ENSP00000498112.1:p.Glu114Ter
ENST00000648395.1:c.64G>T	ENSP00000497666.1:p.Glu22Ter
ENST00000648489.1:n.371G>T
ENST00000648690.1:c.64G>T	ENSP00000497945.1:p.Glu22Ter
ENST00000649014.1:c.340G>T	ENSP00000497984.1:p.Glu114Ter
ENST00000649286.2:c.340G>T MANE Select	ENSP00000497280.1:p.Glu114Ter
ENST00000649365.1:c.*348G>T	ENSP00000496835.1:n.*348G>T
ENST00000649538.1:n.368G>T
ENST00000649790.1:c.64G>T	ENSP00000498193.1:p.Glu22Ter
ENST00000649914.1:c.328G>T	ENSP00000497848.1:p.Glu110Ter
ENST00000650006.1:c.340G>T	ENSP00000497457.1:p.Glu114Ter
ENST00000650365.1:c.*225G>T	ENSP00000497358.1:n.*225G>T
ENST00000650547.1:c.340G>T	ENSP00000496789.1:p.Glu114Ter
ENST00000355413.8:c.340G>T	ENSP00000347581.4:p.Glu114Ter
ENST00000465241.5:n.351G>T
ENST00000473247.5:c.256G>T	ENSP00000420776.1:p.Glu86Ter
ENST00000473884.5:c.*159G>T	ENSP00000420540.1:n.*159G>T
ENST00000494688.1:c.331G>T	ENSP00000418101.1:p.Glu111Ter
ENST00000496273.1:n.103G>T
ENST00000629555.2:c.331G>T	ENSP00000487274.1:p.Glu111Ter
NM_018238.3:c.340G>T	NP_060708.1:p.Glu114Ter
XM_005250023.3:c.340G>T	XP_005250080.1:p.Glu114Ter
XM_011516397.1:c.340G>T	XP_011514699.1:p.Glu114Ter
NM_001364948.1:c.340G>T	NP_001351877.1:p.Glu114Ter
NM_018238.4:c.340G>T MANE Select	NP_060708.1:p.Glu114Ter
XM_011516397.3:c.340G>T	XP_011514699.1:p.Glu114Ter
XM_024446835.1:c.340G>T	XP_024302603.1:p.Glu114Ter
NM_001364948.2:c.340G>T	NP_001351877.1:p.Glu114Ter
NM_001364948.3:c.340G>T	NP_001351877.1:p.Glu114Ter