Canonical Allele Identifier: CA2375128622

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.64049241G= , CM000682.2:g.64049241G= GRCh38
NC_000020.10:g.62680594G= , CM000682.1:g.62680594G= GRCh37
NC_000020.9:g.62151038G= NCBI36
NG_008095.1:g.5386C=

Transcript Alleles

HGVS Amino-acid change
ENST00000340356.9:c.276C= (SOX18) MANE Select ENSP00000341815.7:p.Phe92=
ENST00000340356.8:c.276C= (SOX18) ENSP00000341815.7:p.Phe92=
NM_018419.2:c.276C= (SOX18) NP_060889.1:p.Phe92=
XM_011529022.1:c.-2320+6846G= (TCEA2) XP_011527324.1:n.-2320+6846G=
XM_011529025.1:c.-2236+6846G= (TCEA2) XP_011527327.1:n.-2236+6846G=
XM_024451978.1:c.-2236+6846G= (TCEA2) XP_024307746.1:n.-2236+6846G=
NM_018419.3:c.276C= (SOX18) MANE Select NP_060889.1:p.Phe92=