Canonical Allele Identifier: CA490144218

Linked Data

MyVariant Identifiers: chr15:g.43891948T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599750T>A , CM000677.2:g.43599750T>A GRCh38
NC_000015.9:g.43891948T>A , CM000677.1:g.43891948T>A GRCh37
NC_000015.8:g.41679240T>A NCBI36
NG_011636.1:g.24051A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5250A>T (STRC) MANE Select ENSP00000401513.2:p.Thr1750=
ENST00000411560.1:n.142+217T>A (CKMT1B)
ENST00000428650.5:c.*2283A>T (STRC) ENSP00000415991.1:n.*2283A>T
ENST00000440125.5:c.*3042A>T (STRC) ENSP00000394866.1:n.*3042A>T
ENST00000448437.6:n.2370A>T (STRC)
ENST00000450892.6:c.5250A>T (STRC) ENSP00000401513.2:p.Thr1750=
ENST00000471703.5:n.3204A>T (STRC)
ENST00000485556.5:n.4105A>T (STRC)
ENST00000541030.5:c.2931A>T (STRC) ENSP00000440413.1:p.Thr977=
NM_153700.2:c.5250A>T (STRC) MANE Select NP_714544.1:p.Thr1750=
XM_011521277.1:c.5739A>T (STRC) XP_011519579.1:p.Thr1913=
XM_011521278.1:c.5355A>T (STRC) XP_011519580.1:p.Thr1785=
XM_011521279.1:c.5355A>T (STRC) XP_011519581.1:p.Thr1785=