Canonical Allele Identifier: CA7527826

Linked Data

dbSNP Id: rs766425716

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600554G>A , CM000677.2:g.43600554G>A GRCh38
NC_000015.9:g.43892752G>A , CM000677.1:g.43892752G>A GRCh37
NC_000015.8:g.41680044G>A NCBI36
NG_011636.1:g.23247C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4973C>T (STRC) MANE Select ENSP00000401513.2:p.Thr1658Ile
ENST00000411560.1:n.142+1021G>A (CKMT1B)
ENST00000428650.5:c.*2006C>T (STRC) ENSP00000415991.1:n.*2006C>T
ENST00000440125.5:c.*2765C>T (STRC) ENSP00000394866.1:n.*2765C>T
ENST00000448437.6:n.2093C>T (STRC)
ENST00000450892.6:c.4973C>T (STRC) ENSP00000401513.2:p.Thr1658Ile
ENST00000471703.5:n.2927C>T (STRC)
ENST00000485556.5:n.3828C>T (STRC)
ENST00000541030.5:c.2654C>T (STRC) ENSP00000440413.1:p.Thr885Ile
NM_153700.2:c.4973C>T (STRC) MANE Select NP_714544.1:p.Thr1658Ile
XM_011521277.1:c.5462C>T (STRC) XP_011519579.1:p.Thr1821Ile
XM_011521278.1:c.5078C>T (STRC) XP_011519580.1:p.Thr1693Ile
XM_011521279.1:c.5078C>T (STRC) XP_011519581.1:p.Thr1693Ile