Canonical Allele Identifier: CA392157963

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599972G>A , CM000677.2:g.43599972G>A GRCh38
NC_000015.9:g.43892170G>A , CM000677.1:g.43892170G>A GRCh37
NC_000015.8:g.41679462G>A NCBI36
NG_011636.1:g.23829C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5227C>T (STRC) MANE Select ENSP00000401513.2:p.Pro1743Ser
ENST00000411560.1:n.142+439G>A (CKMT1B)
ENST00000428650.5:c.*2260C>T (STRC) ENSP00000415991.1:n.*2260C>T
ENST00000440125.5:c.*3019C>T (STRC) ENSP00000394866.1:n.*3019C>T
ENST00000448437.6:n.2347C>T (STRC)
ENST00000450892.6:c.5227C>T (STRC) ENSP00000401513.2:p.Pro1743Ser
ENST00000471703.5:n.3181C>T (STRC)
ENST00000485556.5:n.4082C>T (STRC)
ENST00000541030.5:c.2908C>T (STRC) ENSP00000440413.1:p.Pro970Ser
NM_153700.2:c.5227C>T (STRC) MANE Select NP_714544.1:p.Pro1743Ser
XM_011521277.1:c.5716C>T (STRC) XP_011519579.1:p.Pro1906Ser
XM_011521278.1:c.5332C>T (STRC) XP_011519580.1:p.Pro1778Ser
XM_011521279.1:c.5332C>T (STRC) XP_011519581.1:p.Pro1778Ser