Canonical Allele Identifier: CA392157934

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599967T>A , CM000677.2:g.43599967T>A GRCh38
NC_000015.9:g.43892165T>A , CM000677.1:g.43892165T>A GRCh37
NC_000015.8:g.41679457T>A NCBI36
NG_011636.1:g.23834A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5232A>T (STRC) MANE Select ENSP00000401513.2:p.Glu1744Asp
ENST00000411560.1:n.142+434T>A (CKMT1B)
ENST00000428650.5:c.*2265A>T (STRC) ENSP00000415991.1:n.*2265A>T
ENST00000440125.5:c.*3024A>T (STRC) ENSP00000394866.1:n.*3024A>T
ENST00000448437.6:n.2352A>T (STRC)
ENST00000450892.6:c.5232A>T (STRC) ENSP00000401513.2:p.Glu1744Asp
ENST00000471703.5:n.3186A>T (STRC)
ENST00000485556.5:n.4087A>T (STRC)
ENST00000541030.5:c.2913A>T (STRC) ENSP00000440413.1:p.Glu971Asp
NM_153700.2:c.5232A>T (STRC) MANE Select NP_714544.1:p.Glu1744Asp
XM_011521277.1:c.5721A>T (STRC) XP_011519579.1:p.Glu1907Asp
XM_011521278.1:c.5337A>T (STRC) XP_011519580.1:p.Glu1779Asp
XM_011521279.1:c.5337A>T (STRC) XP_011519581.1:p.Glu1779Asp