Canonical Allele Identifier: CA392157801

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599753A>T , CM000677.2:g.43599753A>T GRCh38
NC_000015.9:g.43891951A>T , CM000677.1:g.43891951A>T GRCh37
NC_000015.8:g.41679243A>T NCBI36
NG_011636.1:g.24048T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5247T>A (STRC) MANE Select ENSP00000401513.2:p.Ser1749Arg
ENST00000411560.1:n.142+220A>T (CKMT1B)
ENST00000428650.5:c.*2280T>A (STRC) ENSP00000415991.1:n.*2280T>A
ENST00000440125.5:c.*3039T>A (STRC) ENSP00000394866.1:n.*3039T>A
ENST00000448437.6:n.2367T>A (STRC)
ENST00000450892.6:c.5247T>A (STRC) ENSP00000401513.2:p.Ser1749Arg
ENST00000471703.5:n.3201T>A (STRC)
ENST00000485556.5:n.4102T>A (STRC)
ENST00000541030.5:c.2928T>A (STRC) ENSP00000440413.1:p.Ser976Arg
NM_153700.2:c.5247T>A (STRC) MANE Select NP_714544.1:p.Ser1749Arg
XM_011521277.1:c.5736T>A (STRC) XP_011519579.1:p.Ser1912Arg
XM_011521278.1:c.5352T>A (STRC) XP_011519580.1:p.Ser1784Arg
XM_011521279.1:c.5352T>A (STRC) XP_011519581.1:p.Ser1784Arg