Canonical Allele Identifier: CA2173248522

Linked Data

dbSNP Id: rs1259287017

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601390T>G , CM000677.2:g.43601390T>G GRCh38
NC_000015.9:g.43893588T>G , CM000677.1:g.43893588T>G GRCh37
NC_000015.8:g.41680880T>G NCBI36
NG_011636.1:g.22411A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4701+6A>C (STRC) MANE Select ENSP00000401513.2:n.4701+6A>C
ENST00000411560.1:n.142+1857T>G (CKMT1B)
ENST00000428650.5:c.*1734+6A>C (STRC) ENSP00000415991.1:n.*1734+6A>C
ENST00000440125.5:c.*2493+6A>C (STRC) ENSP00000394866.1:n.*2493+6A>C
ENST00000448437.6:n.1821+6A>C (STRC)
ENST00000450892.6:c.4701+6A>C (STRC) ENSP00000401513.2:n.4701+6A>C
ENST00000460952.1:n.280+6A>C (STRC)
ENST00000471703.5:n.2655+6A>C (STRC)
ENST00000485556.5:n.3556+6A>C (STRC)
ENST00000493750.1:n.497+6A>C (STRC)
ENST00000541030.5:c.2382+6A>C (STRC) ENSP00000440413.1:n.2382+6A>C
NM_153700.2:c.4701+6A>C (STRC) MANE Select NP_714544.1:n.4701+6A>C
XM_011521277.1:c.5190+6A>C (STRC) XP_011519579.1:n.5190+6A>C
XM_011521278.1:c.4806+6A>C (STRC) XP_011519580.1:n.4806+6A>C
XM_011521279.1:c.4806+6A>C (STRC) XP_011519581.1:n.4806+6A>C