Canonical Allele Identifier: CA392163513

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601420C>G , CM000677.2:g.43601420C>G GRCh38
NC_000015.9:g.43893618C>G , CM000677.1:g.43893618C>G GRCh37
NC_000015.8:g.41680910C>G NCBI36
NG_011636.1:g.22381G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4677G>C (STRC) MANE Select ENSP00000401513.2:p.Gln1559His
ENST00000411560.1:n.142+1887C>G (CKMT1B)
ENST00000428650.5:c.*1710G>C (STRC) ENSP00000415991.1:n.*1710G>C
ENST00000440125.5:c.*2469G>C (STRC) ENSP00000394866.1:n.*2469G>C
ENST00000448437.6:n.1797G>C (STRC)
ENST00000450892.6:c.4677G>C (STRC) ENSP00000401513.2:p.Gln1559His
ENST00000460952.1:n.256G>C (STRC)
ENST00000471703.5:n.2631G>C (STRC)
ENST00000485556.5:n.3532G>C (STRC)
ENST00000493750.1:n.473G>C (STRC)
ENST00000541030.5:c.2358G>C (STRC) ENSP00000440413.1:p.Gln786His
NM_153700.2:c.4677G>C (STRC) MANE Select NP_714544.1:p.Gln1559His
XM_011521277.1:c.5166G>C (STRC) XP_011519579.1:p.Gln1722His
XM_011521278.1:c.4782G>C (STRC) XP_011519580.1:p.Gln1594His
XM_011521279.1:c.4782G>C (STRC) XP_011519581.1:p.Gln1594His