Canonical Allele Identifier: CA457985790

Gene: AGK

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141641340T>C , CM000669.2:g.141641340T>C	GRCh38
NC_000007.13:g.141341140T>C , CM000669.1:g.141341140T>C	GRCh37
NC_000007.12:g.140987609T>C	NCBI36
NG_032079.1:g.95063T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018238.4:c.819T>C MANE Select	NP_060708.1:p.Pro273=
ENST00000649286.2:c.819T>C MANE Select	ENSP00000497280.1:p.Pro273=
NM_001364948.1:c.819T>C	NP_001351877.1:p.Pro273=
NM_001364948.2:c.819T>C	NP_001351877.1:p.Pro273=
NM_001364948.3:c.819T>C	NP_001351877.1:p.Pro273=
NM_018238.3:c.819T>C	NP_060708.1:p.Pro273=
ENST00000355413.8:c.819T>C	ENSP00000347581.4:p.Pro273=
ENST00000473247.5:c.735T>C	ENSP00000420776.1:p.Pro245=
ENST00000494688.1:c.718-471T>C	ENSP00000418101.1:n.718-471T>C
ENST00000629555.2:c.718-471T>C	ENSP00000487274.1:n.718-471T>C
ENST00000647568.1:c.*782T>C	ENSP00000497039.1:n.*782T>C
ENST00000648068.1:c.819T>C	ENSP00000498112.1:p.Pro273=
ENST00000648395.1:c.543T>C	ENSP00000497666.1:p.Pro181=
ENST00000648489.1:n.850T>C
ENST00000649014.1:c.*94T>C	ENSP00000497984.1:n.*94T>C
ENST00000649365.1:c.*827T>C	ENSP00000496835.1:n.*827T>C
ENST00000649790.1:c.*255T>C	ENSP00000498193.1:n.*255T>C
ENST00000649914.1:c.807T>C	ENSP00000497848.1:p.Pro269=
ENST00000650006.1:c.819T>C	ENSP00000497457.1:p.Pro273=
ENST00000650365.1:c.*704T>C	ENSP00000497358.1:n.*704T>C
ENST00000650547.1:c.819T>C	ENSP00000496789.1:p.Pro273=
XM_005250023.3:c.819T>C	XP_005250080.1:p.Pro273=
XM_011516397.1:c.819T>C	XP_011514699.1:p.Pro273=
XM_011516397.3:c.819T>C	XP_011514699.1:p.Pro273=
XM_024446835.1:c.819T>C	XP_024302603.1:p.Pro273=