Canonical Allele Identifier: CA392167947

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604390A>C , CM000677.2:g.43604390A>C GRCh38
NC_000015.9:g.43896588A>C , CM000677.1:g.43896588A>C GRCh37
NC_000015.8:g.41683880A>C NCBI36
NG_011636.1:g.19411T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4189T>G (STRC) MANE Select ENSP00000401513.2:p.Ser1397Ala
ENST00000411560.1:n.143-394A>C (CKMT1B)
ENST00000428650.5:c.*1392T>G (STRC) ENSP00000415991.1:n.*1392T>G
ENST00000440125.5:c.*1981T>G (STRC) ENSP00000394866.1:n.*1981T>G
ENST00000448437.6:n.1666-2839T>G (STRC)
ENST00000450892.6:c.4189T>G (STRC) ENSP00000401513.2:p.Ser1397Ala
ENST00000471703.5:n.2143T>G (STRC)
ENST00000485556.5:n.3044T>G (STRC)
ENST00000541030.5:c.1870T>G (STRC) ENSP00000440413.1:p.Ser624Ala
NM_153700.2:c.4189T>G (STRC) MANE Select NP_714544.1:p.Ser1397Ala
XM_011521277.1:c.4678T>G (STRC) XP_011519579.1:p.Ser1560Ala
XM_011521278.1:c.4294T>G (STRC) XP_011519580.1:p.Ser1432Ala
XM_011521279.1:c.4294T>G (STRC) XP_011519581.1:p.Ser1432Ala