Canonical Allele Identifier: CA9232682

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12847946C>T , CM000681.2:g.12847946C>T GRCh38
NC_000019.9:g.12958760C>T , CM000681.1:g.12958760C>T GRCh37
NC_000019.8:g.12819760C>T NCBI36
NG_054729.1:g.19016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000591495.6:c.651C>T (MAST1) ENSP00000466470.1:p.His217=
ENST00000699746.1:c.201C>T (MAST1) ENSP00000514556.1:p.His67=
ENST00000251472.9:c.663C>T (MAST1) MANE Select ENSP00000251472.3:p.His221=
ENST00000251472.8:c.663C>T (MAST1) ENSP00000251472.3:p.His221=
ENST00000588379.5:c.523C>T (MAST1)
ENST00000589765.1:n.33-21446G>A (HOOK2)
ENST00000590204.1:c.128C>T (MAST1)
ENST00000590883.1:n.684C>T (MAST1)
ENST00000591495.5:c.651C>T (MAST1) ENSP00000466470.1:p.His217=
NM_014975.2:c.663C>T (MAST1) NP_055790.1:p.His221=
XM_011527805.1:c.651C>T (MAST1) XP_011526107.1:p.His217=
XM_011527806.1:c.375C>T (MAST1) XP_011526108.1:p.His125=
XM_011527807.1:c.135C>T (MAST1) XP_011526109.1:p.His45=
XM_011527805.2:c.651C>T (MAST1) XP_011526107.1:p.His217=
NM_014975.3:c.663C>T (MAST1) MANE Select NP_055790.1:p.His221=