Canonical Allele Identifier: CA505627611

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12852008A>G , CM000681.2:g.12852008A>G GRCh38
NC_000019.9:g.12962822A>G , CM000681.1:g.12962822A>G GRCh37
NC_000019.8:g.12823822A>G NCBI36
NG_054729.1:g.23078A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000591495.6:c.837A>G (MAST1) ENSP00000466470.1:p.Ser279=
ENST00000699746.1:c.387A>G (MAST1) ENSP00000514556.1:p.Ser129=
ENST00000251472.9:c.849A>G (MAST1) MANE Select ENSP00000251472.3:p.Ser283=
ENST00000251472.8:c.849A>G (MAST1) ENSP00000251472.3:p.Ser283=
ENST00000588379.5:c.709A>G (MAST1)
ENST00000589765.1:n.32+20701T>C (HOOK2)
ENST00000590204.1:c.314A>G (MAST1)
ENST00000591495.5:c.837A>G (MAST1) ENSP00000466470.1:p.Ser279=
NM_014975.2:c.849A>G (MAST1) NP_055790.1:p.Ser283=
XM_011527805.1:c.837A>G (MAST1) XP_011526107.1:p.Ser279=
XM_011527806.1:c.561A>G (MAST1) XP_011526108.1:p.Ser187=
XM_011527807.1:c.321A>G (MAST1) XP_011526109.1:p.Ser107=
XM_011527805.2:c.837A>G (MAST1) XP_011526107.1:p.Ser279=
NM_014975.3:c.849A>G (MAST1) MANE Select NP_055790.1:p.Ser283=