Canonical Allele Identifier: CA392162189

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600653T>A , CM000677.2:g.43600653T>A GRCh38
NC_000015.9:g.43892851T>A , CM000677.1:g.43892851T>A GRCh37
NC_000015.8:g.41680143T>A NCBI36
NG_011636.1:g.23148A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4874A>T (STRC) MANE Select ENSP00000401513.2:p.His1625Leu
ENST00000411560.1:n.142+1120T>A (CKMT1B)
ENST00000428650.5:c.*1907A>T (STRC) ENSP00000415991.1:n.*1907A>T
ENST00000440125.5:c.*2666A>T (STRC) ENSP00000394866.1:n.*2666A>T
ENST00000448437.6:n.1994A>T (STRC)
ENST00000450892.6:c.4874A>T (STRC) ENSP00000401513.2:p.His1625Leu
ENST00000460952.1:n.453A>T (STRC)
ENST00000471703.5:n.2828A>T (STRC)
ENST00000485556.5:n.3729A>T (STRC)
ENST00000541030.5:c.2555A>T (STRC) ENSP00000440413.1:p.His852Leu
NM_153700.2:c.4874A>T (STRC) MANE Select NP_714544.1:p.His1625Leu
XM_011521277.1:c.5363A>T (STRC) XP_011519579.1:p.His1788Leu
XM_011521278.1:c.4979A>T (STRC) XP_011519580.1:p.His1660Leu
XM_011521279.1:c.4979A>T (STRC) XP_011519581.1:p.His1660Leu