Canonical Allele Identifier: CA392157545

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599712G>A , CM000677.2:g.43599712G>A GRCh38
NC_000015.9:g.43891910G>A , CM000677.1:g.43891910G>A GRCh37
NC_000015.8:g.41679202G>A NCBI36
NG_011636.1:g.24089C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5288C>T (STRC) MANE Select ENSP00000401513.2:p.Ser1763Phe
ENST00000411560.1:n.142+179G>A (CKMT1B)
ENST00000428650.5:c.*2321C>T (STRC) ENSP00000415991.1:n.*2321C>T
ENST00000440125.5:c.*3080C>T (STRC) ENSP00000394866.1:n.*3080C>T
ENST00000448437.6:n.2408C>T (STRC)
ENST00000450892.6:c.5288C>T (STRC) ENSP00000401513.2:p.Ser1763Phe
ENST00000471703.5:n.3242C>T (STRC)
ENST00000485556.5:n.4143C>T (STRC)
ENST00000541030.5:c.2969C>T (STRC) ENSP00000440413.1:p.Ser990Phe
NM_153700.2:c.5288C>T (STRC) MANE Select NP_714544.1:p.Ser1763Phe
XM_011521277.1:c.5777C>T (STRC) XP_011519579.1:p.Ser1926Phe
XM_011521278.1:c.5393C>T (STRC) XP_011519580.1:p.Ser1798Phe
XM_011521279.1:c.5393C>T (STRC) XP_011519581.1:p.Ser1798Phe