Canonical Allele Identifier: CA2628141019

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599919G>A , CM000677.2:g.43599919G>A GRCh38
NC_000015.9:g.43892117G>A , CM000677.1:g.43892117G>A GRCh37
NC_000015.8:g.41679409G>A NCBI36
NG_011636.1:g.23882C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5239+41C>T (STRC) MANE Select ENSP00000401513.2:n.5239+41C>T
ENST00000411560.1:n.142+386G>A (CKMT1B)
ENST00000428650.5:c.*2272+41C>T (STRC) ENSP00000415991.1:n.*2272+41C>T
ENST00000440125.5:c.*3031+41C>T (STRC) ENSP00000394866.1:n.*3031+41C>T
ENST00000448437.6:n.2359+41C>T (STRC)
ENST00000450892.6:c.5239+41C>T (STRC) ENSP00000401513.2:n.5239+41C>T
ENST00000471703.5:n.3193+41C>T (STRC)
ENST00000485556.5:n.4094+41C>T (STRC)
ENST00000541030.5:c.2920+41C>T (STRC) ENSP00000440413.1:n.2920+41C>T
NM_153700.2:c.5239+41C>T (STRC) MANE Select NP_714544.1:n.5239+41C>T
XM_011521277.1:c.5728+41C>T (STRC) XP_011519579.1:n.5728+41C>T
XM_011521278.1:c.5344+41C>T (STRC) XP_011519580.1:n.5344+41C>T
XM_011521279.1:c.5344+41C>T (STRC) XP_011519581.1:n.5344+41C>T