Canonical Allele Identifier: CA7527904

Linked Data

dbSNP Id: rs772901207

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600952G>A , CM000677.2:g.43600952G>A GRCh38
NC_000015.9:g.43893150G>A , CM000677.1:g.43893150G>A GRCh37
NC_000015.8:g.41680442G>A NCBI36
NG_011636.1:g.22849C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4764C>T (STRC) MANE Select ENSP00000401513.2:p.Phe1588=
ENST00000411560.1:n.142+1419G>A (CKMT1B)
ENST00000428650.5:c.*1797C>T (STRC) ENSP00000415991.1:n.*1797C>T
ENST00000440125.5:c.*2556C>T (STRC) ENSP00000394866.1:n.*2556C>T
ENST00000448437.6:n.1884C>T (STRC)
ENST00000450892.6:c.4764C>T (STRC) ENSP00000401513.2:p.Phe1588=
ENST00000460952.1:n.343C>T (STRC)
ENST00000471703.5:n.2718C>T (STRC)
ENST00000485556.5:n.3619C>T (STRC)
ENST00000541030.5:c.2445C>T (STRC) ENSP00000440413.1:p.Phe815=
NM_153700.2:c.4764C>T (STRC) MANE Select NP_714544.1:p.Phe1588=
XM_011521277.1:c.5253C>T (STRC) XP_011519579.1:p.Phe1751=
XM_011521278.1:c.4869C>T (STRC) XP_011519580.1:p.Phe1623=
XM_011521279.1:c.4869C>T (STRC) XP_011519581.1:p.Phe1623=