Canonical Allele Identifier: CA2173247846

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599964C= , CM000677.2:g.43599964C= GRCh38
NC_000015.9:g.43892162C= , CM000677.1:g.43892162C= GRCh37
NC_000015.8:g.41679454C= NCBI36
NG_011636.1:g.23837G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5235G= (STRC) MANE Select ENSP00000401513.2:p.Gln1745=
ENST00000411560.1:n.142+431C= (CKMT1B)
ENST00000428650.5:c.*2268G= (STRC) ENSP00000415991.1:n.*2268G=
ENST00000440125.5:c.*3027G= (STRC) ENSP00000394866.1:n.*3027G=
ENST00000448437.6:n.2355G= (STRC)
ENST00000450892.6:c.5235G= (STRC) ENSP00000401513.2:p.Gln1745=
ENST00000471703.5:n.3189G= (STRC)
ENST00000485556.5:n.4090G= (STRC)
ENST00000541030.5:c.2916G= (STRC) ENSP00000440413.1:p.Gln972=
NM_153700.2:c.5235G= (STRC) MANE Select NP_714544.1:p.Gln1745=
XM_011521277.1:c.5724G= (STRC) XP_011519579.1:p.Gln1908=
XM_011521278.1:c.5340G= (STRC) XP_011519580.1:p.Gln1780=
XM_011521279.1:c.5340G= (STRC) XP_011519581.1:p.Gln1780=