Canonical Allele Identifier: CA392168351

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604649C>G , CM000677.2:g.43604649C>G GRCh38
NC_000015.9:g.43896847C>G , CM000677.1:g.43896847C>G GRCh37
NC_000015.8:g.41684139C>G NCBI36
NG_011636.1:g.19152G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4127+1G>C (STRC) MANE Select ENSP00000401513.2:n.4127+1G>C
ENST00000411560.1:n.143-135C>G (CKMT1B)
ENST00000428650.5:c.*1330+1G>C (STRC) ENSP00000415991.1:n.*1330+1G>C
ENST00000440125.5:c.*1919+1G>C (STRC) ENSP00000394866.1:n.*1919+1G>C
ENST00000448437.6:n.1666-3098G>C (STRC)
ENST00000450892.6:c.4127+1G>C (STRC) ENSP00000401513.2:n.4127+1G>C
ENST00000471703.5:n.2081+1G>C (STRC)
ENST00000485556.5:n.2982+1G>C (STRC)
ENST00000541030.5:c.1808+1G>C (STRC) ENSP00000440413.1:n.1808+1G>C
NM_153700.2:c.4127+1G>C (STRC) MANE Select NP_714544.1:n.4127+1G>C
XM_011521277.1:c.4616+1G>C (STRC) XP_011519579.1:n.4616+1G>C
XM_011521278.1:c.4232+1G>C (STRC) XP_011519580.1:n.4232+1G>C
XM_011521279.1:c.4232+1G>C (STRC) XP_011519581.1:n.4232+1G>C