Canonical Allele Identifier: CA392162183

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600652A>C , CM000677.2:g.43600652A>C GRCh38
NC_000015.9:g.43892850A>C , CM000677.1:g.43892850A>C GRCh37
NC_000015.8:g.41680142A>C NCBI36
NG_011636.1:g.23149T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4875T>G (STRC) MANE Select ENSP00000401513.2:p.His1625Gln
ENST00000411560.1:n.142+1119A>C (CKMT1B)
ENST00000428650.5:c.*1908T>G (STRC) ENSP00000415991.1:n.*1908T>G
ENST00000440125.5:c.*2667T>G (STRC) ENSP00000394866.1:n.*2667T>G
ENST00000448437.6:n.1995T>G (STRC)
ENST00000450892.6:c.4875T>G (STRC) ENSP00000401513.2:p.His1625Gln
ENST00000460952.1:n.454T>G (STRC)
ENST00000471703.5:n.2829T>G (STRC)
ENST00000485556.5:n.3730T>G (STRC)
ENST00000541030.5:c.2556T>G (STRC) ENSP00000440413.1:p.His852Gln
NM_153700.2:c.4875T>G (STRC) MANE Select NP_714544.1:p.His1625Gln
XM_011521277.1:c.5364T>G (STRC) XP_011519579.1:p.His1788Gln
XM_011521278.1:c.4980T>G (STRC) XP_011519580.1:p.His1660Gln
XM_011521279.1:c.4980T>G (STRC) XP_011519581.1:p.His1660Gln