Canonical Allele Identifier: CA392167892

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604380G>A , CM000677.2:g.43604380G>A GRCh38
NC_000015.9:g.43896578G>A , CM000677.1:g.43896578G>A GRCh37
NC_000015.8:g.41683870G>A NCBI36
NG_011636.1:g.19421C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4199C>T (STRC) MANE Select ENSP00000401513.2:p.Ala1400Val
ENST00000411560.1:n.143-404G>A (CKMT1B)
ENST00000428650.5:c.*1402C>T (STRC) ENSP00000415991.1:n.*1402C>T
ENST00000440125.5:c.*1991C>T (STRC) ENSP00000394866.1:n.*1991C>T
ENST00000448437.6:n.1666-2829C>T (STRC)
ENST00000450892.6:c.4199C>T (STRC) ENSP00000401513.2:p.Ala1400Val
ENST00000471703.5:n.2153C>T (STRC)
ENST00000485556.5:n.3054C>T (STRC)
ENST00000541030.5:c.1880C>T (STRC) ENSP00000440413.1:p.Ala627Val
NM_153700.2:c.4199C>T (STRC) MANE Select NP_714544.1:p.Ala1400Val
XM_011521277.1:c.4688C>T (STRC) XP_011519579.1:p.Ala1563Val
XM_011521278.1:c.4304C>T (STRC) XP_011519580.1:p.Ala1435Val
XM_011521279.1:c.4304C>T (STRC) XP_011519581.1:p.Ala1435Val