Canonical Allele Identifier: CA392159917

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600552C>A , CM000677.2:g.43600552C>A GRCh38
NC_000015.9:g.43892750C>A , CM000677.1:g.43892750C>A GRCh37
NC_000015.8:g.41680042C>A NCBI36
NG_011636.1:g.23249G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4975G>T (STRC) MANE Select ENSP00000401513.2:p.Glu1659Ter
ENST00000411560.1:n.142+1019C>A (CKMT1B)
ENST00000428650.5:c.*2008G>T (STRC) ENSP00000415991.1:n.*2008G>T
ENST00000440125.5:c.*2767G>T (STRC) ENSP00000394866.1:n.*2767G>T
ENST00000448437.6:n.2095G>T (STRC)
ENST00000450892.6:c.4975G>T (STRC) ENSP00000401513.2:p.Glu1659Ter
ENST00000471703.5:n.2929G>T (STRC)
ENST00000485556.5:n.3830G>T (STRC)
ENST00000541030.5:c.2656G>T (STRC) ENSP00000440413.1:p.Glu886Ter
NM_153700.2:c.4975G>T (STRC) MANE Select NP_714544.1:p.Glu1659Ter
XM_011521277.1:c.5464G>T (STRC) XP_011519579.1:p.Glu1822Ter
XM_011521278.1:c.5080G>T (STRC) XP_011519580.1:p.Glu1694Ter
XM_011521279.1:c.5080G>T (STRC) XP_011519581.1:p.Glu1694Ter