Canonical Allele Identifier: CA392157948

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599969C>G , CM000677.2:g.43599969C>G GRCh38
NC_000015.9:g.43892167C>G , CM000677.1:g.43892167C>G GRCh37
NC_000015.8:g.41679459C>G NCBI36
NG_011636.1:g.23832G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5230G>C (STRC) MANE Select ENSP00000401513.2:p.Glu1744Gln
ENST00000411560.1:n.142+436C>G (CKMT1B)
ENST00000428650.5:c.*2263G>C (STRC) ENSP00000415991.1:n.*2263G>C
ENST00000440125.5:c.*3022G>C (STRC) ENSP00000394866.1:n.*3022G>C
ENST00000448437.6:n.2350G>C (STRC)
ENST00000450892.6:c.5230G>C (STRC) ENSP00000401513.2:p.Glu1744Gln
ENST00000471703.5:n.3184G>C (STRC)
ENST00000485556.5:n.4085G>C (STRC)
ENST00000541030.5:c.2911G>C (STRC) ENSP00000440413.1:p.Glu971Gln
NM_153700.2:c.5230G>C (STRC) MANE Select NP_714544.1:p.Glu1744Gln
XM_011521277.1:c.5719G>C (STRC) XP_011519579.1:p.Glu1907Gln
XM_011521278.1:c.5335G>C (STRC) XP_011519580.1:p.Glu1779Gln
XM_011521279.1:c.5335G>C (STRC) XP_011519581.1:p.Glu1779Gln