Canonical Allele Identifier: CA392157738

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599743C>G , CM000677.2:g.43599743C>G GRCh38
NC_000015.9:g.43891941C>G , CM000677.1:g.43891941C>G GRCh37
NC_000015.8:g.41679233C>G NCBI36
NG_011636.1:g.24058G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5257G>C (STRC) MANE Select ENSP00000401513.2:p.Gly1753Arg
ENST00000411560.1:n.142+210C>G (CKMT1B)
ENST00000428650.5:c.*2290G>C (STRC) ENSP00000415991.1:n.*2290G>C
ENST00000440125.5:c.*3049G>C (STRC) ENSP00000394866.1:n.*3049G>C
ENST00000448437.6:n.2377G>C (STRC)
ENST00000450892.6:c.5257G>C (STRC) ENSP00000401513.2:p.Gly1753Arg
ENST00000471703.5:n.3211G>C (STRC)
ENST00000485556.5:n.4112G>C (STRC)
ENST00000541030.5:c.2938G>C (STRC) ENSP00000440413.1:p.Gly980Arg
NM_153700.2:c.5257G>C (STRC) MANE Select NP_714544.1:p.Gly1753Arg
XM_011521277.1:c.5746G>C (STRC) XP_011519579.1:p.Gly1916Arg
XM_011521278.1:c.5362G>C (STRC) XP_011519580.1:p.Gly1788Arg
XM_011521279.1:c.5362G>C (STRC) XP_011519581.1:p.Gly1788Arg