Canonical Allele Identifier: CA631840369

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12838667A>T , CM000681.2:g.12838667A>T GRCh38
NC_000019.9:g.12949481A>T , CM000681.1:g.12949481A>T GRCh37
NC_000019.8:g.12810481A>T NCBI36
NG_054729.1:g.9737A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000591495.6:c.71+367A>T (MAST1) ENSP00000466470.1:n.71+367A>T
ENST00000251472.9:c.83+12A>T (MAST1) MANE Select ENSP00000251472.3:n.83+12A>T
ENST00000251472.8:c.83+12A>T (MAST1) ENSP00000251472.3:n.83+12A>T
ENST00000589765.1:n.33-12167T>A (HOOK2)
ENST00000590883.1:n.183+12A>T (MAST1)
ENST00000591495.5:c.71+367A>T (MAST1) ENSP00000466470.1:n.71+367A>T
NM_014975.2:c.83+12A>T (MAST1) NP_055790.1:n.83+12A>T
XM_011527805.1:c.71+367A>T (MAST1) XP_011526107.1:n.71+367A>T
XM_011527806.1:c.39+4661A>T (MAST1) XP_011526108.1:n.39+4661A>T
XM_011527805.2:c.71+367A>T (MAST1) XP_011526107.1:n.71+367A>T
NM_014975.3:c.83+12A>T (MAST1) MANE Select NP_055790.1:n.83+12A>T