Canonical Allele Identifier: CA392157710

Linked Data

dbSNP Id: rs2085649939

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599737G>A , CM000677.2:g.43599737G>A GRCh38
NC_000015.9:g.43891935G>A , CM000677.1:g.43891935G>A GRCh37
NC_000015.8:g.41679227G>A NCBI36
NG_011636.1:g.24064C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5263C>T (STRC) MANE Select ENSP00000401513.2:p.Gln1755Ter
ENST00000411560.1:n.142+204G>A (CKMT1B)
ENST00000428650.5:c.*2296C>T (STRC) ENSP00000415991.1:n.*2296C>T
ENST00000440125.5:c.*3055C>T (STRC) ENSP00000394866.1:n.*3055C>T
ENST00000448437.6:n.2383C>T (STRC)
ENST00000450892.6:c.5263C>T (STRC) ENSP00000401513.2:p.Gln1755Ter
ENST00000471703.5:n.3217C>T (STRC)
ENST00000485556.5:n.4118C>T (STRC)
ENST00000541030.5:c.2944C>T (STRC) ENSP00000440413.1:p.Gln982Ter
NM_153700.2:c.5263C>T (STRC) MANE Select NP_714544.1:p.Gln1755Ter
XM_011521277.1:c.5752C>T (STRC) XP_011519579.1:p.Gln1918Ter
XM_011521278.1:c.5368C>T (STRC) XP_011519580.1:p.Gln1790Ter
XM_011521279.1:c.5368C>T (STRC) XP_011519581.1:p.Gln1790Ter