Canonical Allele Identifier: CA392157820

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599760C>A , CM000677.2:g.43599760C>A GRCh38
NC_000015.9:g.43891958C>A , CM000677.1:g.43891958C>A GRCh37
NC_000015.8:g.41679250C>A NCBI36
NG_011636.1:g.24041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5240G>T (STRC) MANE Select ENSP00000401513.2:p.Gly1747Val
ENST00000411560.1:n.142+227C>A (CKMT1B)
ENST00000428650.5:c.*2273G>T (STRC) ENSP00000415991.1:n.*2273G>T
ENST00000440125.5:c.*3032G>T (STRC) ENSP00000394866.1:n.*3032G>T
ENST00000448437.6:n.2360G>T (STRC)
ENST00000450892.6:c.5240G>T (STRC) ENSP00000401513.2:p.Gly1747Val
ENST00000471703.5:n.3194G>T (STRC)
ENST00000485556.5:n.4095G>T (STRC)
ENST00000541030.5:c.2921G>T (STRC) ENSP00000440413.1:p.Gly974Val
NM_153700.2:c.5240G>T (STRC) MANE Select NP_714544.1:p.Gly1747Val
XM_011521277.1:c.5729G>T (STRC) XP_011519579.1:p.Gly1910Val
XM_011521278.1:c.5345G>T (STRC) XP_011519580.1:p.Gly1782Val
XM_011521279.1:c.5345G>T (STRC) XP_011519581.1:p.Gly1782Val