Canonical Allele Identifier: CA2173248128

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600659G= , CM000677.2:g.43600659G= GRCh38
NC_000015.9:g.43892857G= , CM000677.1:g.43892857G= GRCh37
NC_000015.8:g.41680149G= NCBI36
NG_011636.1:g.23142C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4868C= (STRC) MANE Select ENSP00000401513.2:p.Thr1623=
ENST00000411560.1:n.142+1126G= (CKMT1B)
ENST00000428650.5:c.*1901C= (STRC) ENSP00000415991.1:n.*1901C=
ENST00000440125.5:c.*2660C= (STRC) ENSP00000394866.1:n.*2660C=
ENST00000448437.6:n.1988C= (STRC)
ENST00000450892.6:c.4868C= (STRC) ENSP00000401513.2:p.Thr1623=
ENST00000460952.1:n.447C= (STRC)
ENST00000471703.5:n.2822C= (STRC)
ENST00000485556.5:n.3723C= (STRC)
ENST00000541030.5:c.2549C= (STRC) ENSP00000440413.1:p.Thr850=
NM_153700.2:c.4868C= (STRC) MANE Select NP_714544.1:p.Thr1623=
XM_011521277.1:c.5357C= (STRC) XP_011519579.1:p.Thr1786=
XM_011521278.1:c.4973C= (STRC) XP_011519580.1:p.Thr1658=
XM_011521279.1:c.4973C= (STRC) XP_011519581.1:p.Thr1658=