Canonical Allele Identifier: CA2173247847

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599966G= , CM000677.2:g.43599966G= GRCh38
NC_000015.9:g.43892164G= , CM000677.1:g.43892164G= GRCh37
NC_000015.8:g.41679456G= NCBI36
NG_011636.1:g.23835C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5233C= (STRC) MANE Select ENSP00000401513.2:p.Gln1745=
ENST00000411560.1:n.142+433G= (CKMT1B)
ENST00000428650.5:c.*2266C= (STRC) ENSP00000415991.1:n.*2266C=
ENST00000440125.5:c.*3025C= (STRC) ENSP00000394866.1:n.*3025C=
ENST00000448437.6:n.2353C= (STRC)
ENST00000450892.6:c.5233C= (STRC) ENSP00000401513.2:p.Gln1745=
ENST00000471703.5:n.3187C= (STRC)
ENST00000485556.5:n.4088C= (STRC)
ENST00000541030.5:c.2914C= (STRC) ENSP00000440413.1:p.Gln972=
NM_153700.2:c.5233C= (STRC) MANE Select NP_714544.1:p.Gln1745=
XM_011521277.1:c.5722C= (STRC) XP_011519579.1:p.Gln1908=
XM_011521278.1:c.5338C= (STRC) XP_011519580.1:p.Gln1780=
XM_011521279.1:c.5338C= (STRC) XP_011519581.1:p.Gln1780=