Canonical Allele Identifier: CA7527886

Linked Data

dbSNP Id: rs762392247

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600892G>A , CM000677.2:g.43600892G>A GRCh38
NC_000015.9:g.43893090G>A , CM000677.1:g.43893090G>A GRCh37
NC_000015.8:g.41680382G>A NCBI36
NG_011636.1:g.22909C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4824C>T (STRC) MANE Select ENSP00000401513.2:p.His1608=
ENST00000411560.1:n.142+1359G>A (CKMT1B)
ENST00000428650.5:c.*1857C>T (STRC) ENSP00000415991.1:n.*1857C>T
ENST00000440125.5:c.*2616C>T (STRC) ENSP00000394866.1:n.*2616C>T
ENST00000448437.6:n.1944C>T (STRC)
ENST00000450892.6:c.4824C>T (STRC) ENSP00000401513.2:p.His1608=
ENST00000460952.1:n.403C>T (STRC)
ENST00000471703.5:n.2778C>T (STRC)
ENST00000485556.5:n.3679C>T (STRC)
ENST00000541030.5:c.2505C>T (STRC) ENSP00000440413.1:p.His835=
NM_153700.2:c.4824C>T (STRC) MANE Select NP_714544.1:p.His1608=
XM_011521277.1:c.5313C>T (STRC) XP_011519579.1:p.His1771=
XM_011521278.1:c.4929C>T (STRC) XP_011519580.1:p.His1643=
XM_011521279.1:c.4929C>T (STRC) XP_011519581.1:p.His1643=