Canonical Allele Identifier: CA392157358

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599674A>T , CM000677.2:g.43599674A>T GRCh38
NC_000015.9:g.43891872A>T , CM000677.1:g.43891872A>T GRCh37
NC_000015.8:g.41679164A>T NCBI36
NG_011636.1:g.24127T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5326T>A (STRC) MANE Select ENSP00000401513.2:p.Ter1776Arg
ENST00000411560.1:n.142+141A>T (CKMT1B)
ENST00000428650.5:c.*2359T>A (STRC) ENSP00000415991.1:n.*2359T>A
ENST00000440125.5:c.*3118T>A (STRC) ENSP00000394866.1:n.*3118T>A
ENST00000448437.6:n.2446T>A (STRC)
ENST00000450892.6:c.5326T>A (STRC) ENSP00000401513.2:p.Ter1776Arg
ENST00000471703.5:n.3280T>A (STRC)
ENST00000485556.5:n.4181T>A (STRC)
ENST00000541030.5:c.3007T>A (STRC) ENSP00000440413.1:p.Ter1003Arg
NM_153700.2:c.5326T>A (STRC) MANE Select NP_714544.1:p.Ter1776Arg
XM_011521277.1:c.5815T>A (STRC) XP_011519579.1:p.Ter1939Arg
XM_011521278.1:c.5431T>A (STRC) XP_011519580.1:p.Ter1811Arg
XM_011521279.1:c.5431T>A (STRC) XP_011519581.1:p.Ter1811Arg