Canonical Allele Identifier: CA369549531

Gene: AGK

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.141611236G>C , CM000669.2:g.141611236G>C	GRCh38
NC_000007.13:g.141311036G>C , CM000669.1:g.141311036G>C	GRCh37
NC_000007.12:g.140957505G>C	NCBI36
NG_032079.1:g.64959G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647568.1:c.339G>C	ENSP00000497039.1:p.Met113Ile
ENST00000647898.1:n.229G>C
ENST00000648068.1:c.339G>C	ENSP00000498112.1:p.Met113Ile
ENST00000648395.1:c.63G>C	ENSP00000497666.1:p.Met21Ile
ENST00000648489.1:n.370G>C
ENST00000648690.1:c.63G>C	ENSP00000497945.1:p.Met21Ile
ENST00000649014.1:c.339G>C	ENSP00000497984.1:p.Met113Ile
ENST00000649286.2:c.339G>C MANE Select	ENSP00000497280.1:p.Met113Ile
ENST00000649365.1:c.*347G>C	ENSP00000496835.1:n.*347G>C
ENST00000649538.1:n.367G>C
ENST00000649790.1:c.63G>C	ENSP00000498193.1:p.Met21Ile
ENST00000649914.1:c.327G>C	ENSP00000497848.1:p.Met109Ile
ENST00000650006.1:c.339G>C	ENSP00000497457.1:p.Met113Ile
ENST00000650365.1:c.*224G>C	ENSP00000497358.1:n.*224G>C
ENST00000650547.1:c.339G>C	ENSP00000496789.1:p.Met113Ile
ENST00000355413.8:c.339G>C	ENSP00000347581.4:p.Met113Ile
ENST00000465241.5:n.350G>C
ENST00000473247.5:c.255G>C	ENSP00000420776.1:p.Met85Ile
ENST00000473884.5:c.*158G>C	ENSP00000420540.1:n.*158G>C
ENST00000494688.1:c.330G>C	ENSP00000418101.1:p.Met110Ile
ENST00000496273.1:n.102G>C
ENST00000629555.2:c.330G>C	ENSP00000487274.1:p.Met110Ile
NM_018238.3:c.339G>C	NP_060708.1:p.Met113Ile
XM_005250023.3:c.339G>C	XP_005250080.1:p.Met113Ile
XM_011516397.1:c.339G>C	XP_011514699.1:p.Met113Ile
NM_001364948.1:c.339G>C	NP_001351877.1:p.Met113Ile
NM_018238.4:c.339G>C MANE Select	NP_060708.1:p.Met113Ile
XM_011516397.3:c.339G>C	XP_011514699.1:p.Met113Ile
XM_024446835.1:c.339G>C	XP_024302603.1:p.Met113Ile
NM_001364948.2:c.339G>C	NP_001351877.1:p.Met113Ile
NM_001364948.3:c.339G>C	NP_001351877.1:p.Met113Ile