Canonical Allele Identifier: CA392157994

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599976C>G , CM000677.2:g.43599976C>G GRCh38
NC_000015.9:g.43892174C>G , CM000677.1:g.43892174C>G GRCh37
NC_000015.8:g.41679466C>G NCBI36
NG_011636.1:g.23825G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5223G>C (STRC) MANE Select ENSP00000401513.2:p.Glu1741Asp
ENST00000411560.1:n.142+443C>G (CKMT1B)
ENST00000428650.5:c.*2256G>C (STRC) ENSP00000415991.1:n.*2256G>C
ENST00000440125.5:c.*3015G>C (STRC) ENSP00000394866.1:n.*3015G>C
ENST00000448437.6:n.2343G>C (STRC)
ENST00000450892.6:c.5223G>C (STRC) ENSP00000401513.2:p.Glu1741Asp
ENST00000471703.5:n.3177G>C (STRC)
ENST00000485556.5:n.4078G>C (STRC)
ENST00000541030.5:c.2904G>C (STRC) ENSP00000440413.1:p.Glu968Asp
NM_153700.2:c.5223G>C (STRC) MANE Select NP_714544.1:p.Glu1741Asp
XM_011521277.1:c.5712G>C (STRC) XP_011519579.1:p.Glu1904Asp
XM_011521278.1:c.5328G>C (STRC) XP_011519580.1:p.Glu1776Asp
XM_011521279.1:c.5328G>C (STRC) XP_011519581.1:p.Glu1776Asp