Canonical Allele Identifier: CA392158000

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599977T>C , CM000677.2:g.43599977T>C GRCh38
NC_000015.9:g.43892175T>C , CM000677.1:g.43892175T>C GRCh37
NC_000015.8:g.41679467T>C NCBI36
NG_011636.1:g.23824A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5222A>G (STRC) MANE Select ENSP00000401513.2:p.Glu1741Gly
ENST00000411560.1:n.142+444T>C (CKMT1B)
ENST00000428650.5:c.*2255A>G (STRC) ENSP00000415991.1:n.*2255A>G
ENST00000440125.5:c.*3014A>G (STRC) ENSP00000394866.1:n.*3014A>G
ENST00000448437.6:n.2342A>G (STRC)
ENST00000450892.6:c.5222A>G (STRC) ENSP00000401513.2:p.Glu1741Gly
ENST00000471703.5:n.3176A>G (STRC)
ENST00000485556.5:n.4077A>G (STRC)
ENST00000541030.5:c.2903A>G (STRC) ENSP00000440413.1:p.Glu968Gly
NM_153700.2:c.5222A>G (STRC) MANE Select NP_714544.1:p.Glu1741Gly
XM_011521277.1:c.5711A>G (STRC) XP_011519579.1:p.Glu1904Gly
XM_011521278.1:c.5327A>G (STRC) XP_011519580.1:p.Glu1776Gly
XM_011521279.1:c.5327A>G (STRC) XP_011519581.1:p.Glu1776Gly