Canonical Allele Identifier: CA392167811

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604363T>A , CM000677.2:g.43604363T>A GRCh38
NC_000015.9:g.43896561T>A , CM000677.1:g.43896561T>A GRCh37
NC_000015.8:g.41683853T>A NCBI36
NG_011636.1:g.19438A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4216A>T (STRC) MANE Select ENSP00000401513.2:p.Arg1406Trp
ENST00000411560.1:n.143-421T>A (CKMT1B)
ENST00000428650.5:c.*1419A>T (STRC) ENSP00000415991.1:n.*1419A>T
ENST00000440125.5:c.*2008A>T (STRC) ENSP00000394866.1:n.*2008A>T
ENST00000448437.6:n.1666-2812A>T (STRC)
ENST00000450892.6:c.4216A>T (STRC) ENSP00000401513.2:p.Arg1406Trp
ENST00000471703.5:n.2170A>T (STRC)
ENST00000485556.5:n.3071A>T (STRC)
ENST00000541030.5:c.1897A>T (STRC) ENSP00000440413.1:p.Arg633Trp
NM_153700.2:c.4216A>T (STRC) MANE Select NP_714544.1:p.Arg1406Trp
XM_011521277.1:c.4705A>T (STRC) XP_011519579.1:p.Arg1569Trp
XM_011521278.1:c.4321A>T (STRC) XP_011519580.1:p.Arg1441Trp
XM_011521279.1:c.4321A>T (STRC) XP_011519581.1:p.Arg1441Trp