Canonical Allele Identifier: CA404289245

Gene: MAST1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12874019G>A , CM000681.2:g.12874019G>A	GRCh38
NC_000019.9:g.12984833G>A , CM000681.1:g.12984833G>A	GRCh37
NC_000019.8:g.12845833G>A	NCBI36
NG_054729.1:g.45089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.3862G>A MANE Select	ENSP00000251472.3:p.Glu1288Lys
ENST00000251472.8:c.3862G>A	ENSP00000251472.3:p.Glu1288Lys
ENST00000585791.1:n.669G>A
NM_014975.2:c.3862G>A	NP_055790.1:p.Glu1288Lys
XM_011527805.1:c.3850G>A	XP_011526107.1:p.Glu1284Lys
XM_011527806.1:c.3574G>A	XP_011526108.1:p.Glu1192Lys
XM_011527807.1:c.3334G>A	XP_011526109.1:p.Glu1112Lys
XM_011527808.1:c.2530G>A	XP_011526110.1:p.Glu844Lys
XM_011527805.2:c.3850G>A	XP_011526107.1:p.Glu1284Lys
XM_011527808.2:c.2530G>A	XP_011526110.1:p.Glu844Lys
NM_014975.3:c.3862G>A MANE Select	NP_055790.1:p.Glu1288Lys