Canonical Allele Identifier: CA712992751

Linked Data

dbSNP Id: rs1382047236

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604308G>A , CM000677.2:g.43604308G>A GRCh38
NC_000015.9:g.43896506G>A , CM000677.1:g.43896506G>A GRCh37
NC_000015.8:g.41683798G>A NCBI36
NG_011636.1:g.19493C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4218+53C>T (STRC) MANE Select ENSP00000401513.2:n.4218+53C>T
ENST00000411560.1:n.143-476G>A (CKMT1B)
ENST00000428650.5:c.*1421+53C>T (STRC) ENSP00000415991.1:n.*1421+53C>T
ENST00000440125.5:c.*2010+53C>T (STRC) ENSP00000394866.1:n.*2010+53C>T
ENST00000448437.6:n.1666-2757C>T (STRC)
ENST00000450892.6:c.4218+53C>T (STRC) ENSP00000401513.2:n.4218+53C>T
ENST00000471703.5:n.2172+53C>T (STRC)
ENST00000485556.5:n.3073+53C>T (STRC)
ENST00000541030.5:c.1899+53C>T (STRC) ENSP00000440413.1:n.1899+53C>T
NM_153700.2:c.4218+53C>T (STRC) MANE Select NP_714544.1:n.4218+53C>T
XM_011521277.1:c.4707+53C>T (STRC) XP_011519579.1:n.4707+53C>T
XM_011521278.1:c.4323+53C>T (STRC) XP_011519580.1:n.4323+53C>T
XM_011521279.1:c.4323+53C>T (STRC) XP_011519581.1:n.4323+53C>T