Canonical Allele Identifier: CA392160352

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600588C>A , CM000677.2:g.43600588C>A GRCh38
NC_000015.9:g.43892786C>A , CM000677.1:g.43892786C>A GRCh37
NC_000015.8:g.41680078C>A NCBI36
NG_011636.1:g.23213G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4939G>T (STRC) MANE Select ENSP00000401513.2:p.Gly1647Cys
ENST00000411560.1:n.142+1055C>A (CKMT1B)
ENST00000428650.5:c.*1972G>T (STRC) ENSP00000415991.1:n.*1972G>T
ENST00000440125.5:c.*2731G>T (STRC) ENSP00000394866.1:n.*2731G>T
ENST00000448437.6:n.2059G>T (STRC)
ENST00000450892.6:c.4939G>T (STRC) ENSP00000401513.2:p.Gly1647Cys
ENST00000460952.1:n.518G>T (STRC)
ENST00000471703.5:n.2893G>T (STRC)
ENST00000485556.5:n.3794G>T (STRC)
ENST00000541030.5:c.2620G>T (STRC) ENSP00000440413.1:p.Gly874Cys
NM_153700.2:c.4939G>T (STRC) MANE Select NP_714544.1:p.Gly1647Cys
XM_011521277.1:c.5428G>T (STRC) XP_011519579.1:p.Gly1810Cys
XM_011521278.1:c.5044G>T (STRC) XP_011519580.1:p.Gly1682Cys
XM_011521279.1:c.5044G>T (STRC) XP_011519581.1:p.Gly1682Cys