Canonical Allele Identifier: CA369549511
Gene: AGK HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141611234A>C , CM000669.2:g.141611234A>C GRCh38
NC_000007.13:g.141311034A>C , CM000669.1:g.141311034A>C GRCh37
NC_000007.12:g.140957503A>C NCBI36
NG_032079.1:g.64957A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647568.1:c.337A>C ENSP00000497039.1:p.Met113Leu
ENST00000647898.1:n.227A>C
ENST00000648068.1:c.337A>C ENSP00000498112.1:p.Met113Leu
ENST00000648395.1:c.61A>C ENSP00000497666.1:p.Met21Leu
ENST00000648489.1:n.368A>C
ENST00000648690.1:c.61A>C ENSP00000497945.1:p.Met21Leu
ENST00000649014.1:c.337A>C ENSP00000497984.1:p.Met113Leu
ENST00000649286.2:c.337A>C MANE Select ENSP00000497280.1:p.Met113Leu
ENST00000649365.1:c.*345A>C ENSP00000496835.1:n.*345A>C
ENST00000649538.1:n.365A>C
ENST00000649790.1:c.61A>C ENSP00000498193.1:p.Met21Leu
ENST00000649914.1:c.325A>C ENSP00000497848.1:p.Met109Leu
ENST00000650006.1:c.337A>C ENSP00000497457.1:p.Met113Leu
ENST00000650365.1:c.*222A>C ENSP00000497358.1:n.*222A>C
ENST00000650547.1:c.337A>C ENSP00000496789.1:p.Met113Leu
ENST00000355413.8:c.337A>C ENSP00000347581.4:p.Met113Leu
ENST00000465241.5:n.348A>C
ENST00000473247.5:c.253A>C ENSP00000420776.1:p.Met85Leu
ENST00000473884.5:c.*156A>C ENSP00000420540.1:n.*156A>C
ENST00000494688.1:c.328A>C ENSP00000418101.1:p.Met110Leu
ENST00000496273.1:n.100A>C
ENST00000629555.2:c.328A>C ENSP00000487274.1:p.Met110Leu
NM_018238.3:c.337A>C NP_060708.1:p.Met113Leu
XM_005250023.3:c.337A>C XP_005250080.1:p.Met113Leu
XM_011516397.1:c.337A>C XP_011514699.1:p.Met113Leu
NM_001364948.1:c.337A>C NP_001351877.1:p.Met113Leu
NM_018238.4:c.337A>C MANE Select NP_060708.1:p.Met113Leu
XM_011516397.3:c.337A>C XP_011514699.1:p.Met113Leu
XM_024446835.1:c.337A>C XP_024302603.1:p.Met113Leu
NM_001364948.2:c.337A>C NP_001351877.1:p.Met113Leu
NM_001364948.3:c.337A>C NP_001351877.1:p.Met113Leu