Canonical Allele Identifier: CA210526

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.64048601G>T , CM000682.2:g.64048601G>T GRCh38
NC_000020.10:g.62679954G>T , CM000682.1:g.62679954G>T GRCh37
NC_000020.9:g.62150398G>T NCBI36
NG_008095.1:g.6026C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340356.9:c.720C>A (SOX18) MANE Select ENSP00000341815.7:p.Cys240Ter
ENST00000340356.8:c.720C>A (SOX18) ENSP00000341815.7:p.Cys240Ter
ENST00000450537.5:c.-6+104C>A (ZNF512B) ENSP00000393795.1:n.-6+104C>A
NM_018419.2:c.720C>A (SOX18) NP_060889.1:p.Cys240Ter
XM_011529022.1:c.-2320+6206G>T (TCEA2) XP_011527324.1:n.-2320+6206G>T
XM_011529025.1:c.-2236+6206G>T (TCEA2) XP_011527327.1:n.-2236+6206G>T
XM_024451978.1:c.-2236+6206G>T (TCEA2) XP_024307746.1:n.-2236+6206G>T
NM_018419.3:c.720C>A (SOX18) MANE Select NP_060889.1:p.Cys240Ter