Canonical Allele Identifier: CA2173252150

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604642G= , CM000677.2:g.43604642G= GRCh38
NC_000015.9:g.43896840G= , CM000677.1:g.43896840G= GRCh37
NC_000015.8:g.41684132G= NCBI36
NG_011636.1:g.19159C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4127+8C= (STRC) MANE Select ENSP00000401513.2:n.4127+8C=
ENST00000411560.1:n.143-142G= (CKMT1B)
ENST00000428650.5:c.*1330+8C= (STRC) ENSP00000415991.1:n.*1330+8C=
ENST00000440125.5:c.*1919+8C= (STRC) ENSP00000394866.1:n.*1919+8C=
ENST00000448437.6:n.1666-3091C= (STRC)
ENST00000450892.6:c.4127+8C= (STRC) ENSP00000401513.2:n.4127+8C=
ENST00000471703.5:n.2081+8C= (STRC)
ENST00000485556.5:n.2982+8C= (STRC)
ENST00000541030.5:c.1808+8C= (STRC) ENSP00000440413.1:n.1808+8C=
NM_153700.2:c.4127+8C= (STRC) MANE Select NP_714544.1:n.4127+8C=
XM_011521277.1:c.4616+8C= (STRC) XP_011519579.1:n.4616+8C=
XM_011521278.1:c.4232+8C= (STRC) XP_011519580.1:n.4232+8C=
XM_011521279.1:c.4232+8C= (STRC) XP_011519581.1:n.4232+8C=