Canonical Allele Identifier: CA392162602

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600888T>G , CM000677.2:g.43600888T>G GRCh38
NC_000015.9:g.43893086T>G , CM000677.1:g.43893086T>G GRCh37
NC_000015.8:g.41680378T>G NCBI36
NG_011636.1:g.22913A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4828A>C (STRC) MANE Select ENSP00000401513.2:p.Ser1610Arg
ENST00000411560.1:n.142+1355T>G (CKMT1B)
ENST00000428650.5:c.*1861A>C (STRC) ENSP00000415991.1:n.*1861A>C
ENST00000440125.5:c.*2620A>C (STRC) ENSP00000394866.1:n.*2620A>C
ENST00000448437.6:n.1948A>C (STRC)
ENST00000450892.6:c.4828A>C (STRC) ENSP00000401513.2:p.Ser1610Arg
ENST00000460952.1:n.407A>C (STRC)
ENST00000471703.5:n.2782A>C (STRC)
ENST00000485556.5:n.3683A>C (STRC)
ENST00000541030.5:c.2509A>C (STRC) ENSP00000440413.1:p.Ser837Arg
NM_153700.2:c.4828A>C (STRC) MANE Select NP_714544.1:p.Ser1610Arg
XM_011521277.1:c.5317A>C (STRC) XP_011519579.1:p.Ser1773Arg
XM_011521278.1:c.4933A>C (STRC) XP_011519580.1:p.Ser1645Arg
XM_011521279.1:c.4933A>C (STRC) XP_011519581.1:p.Ser1645Arg