Canonical Allele Identifier: CA404275300

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12866685T>C , CM000681.2:g.12866685T>C	GRCh38
NC_000019.9:g.12977499T>C , CM000681.1:g.12977499T>C	GRCh37
NC_000019.8:g.12838499T>C	NCBI36
NG_054729.1:g.37755T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.2062T>C (MAST1) MANE Select	ENSP00000251472.3:p.Tyr688His
ENST00000251472.8:c.2062T>C (MAST1)	ENSP00000251472.3:p.Tyr688His
ENST00000589765.1:n.32+6024A>G (HOOK2)
NM_014975.2:c.2062T>C (MAST1)	NP_055790.1:p.Tyr688His
XM_011527805.1:c.2050T>C (MAST1)	XP_011526107.1:p.Tyr684His
XM_011527806.1:c.1774T>C (MAST1)	XP_011526108.1:p.Tyr592His
XM_011527807.1:c.1534T>C (MAST1)	XP_011526109.1:p.Tyr512His
XM_011527808.1:c.730T>C (MAST1)	XP_011526110.1:p.Tyr244His
XM_011527805.2:c.2050T>C (MAST1)	XP_011526107.1:p.Tyr684His
XM_011527808.2:c.730T>C (MAST1)	XP_011526110.1:p.Tyr244His
NM_014975.3:c.2062T>C (MAST1) MANE Select	NP_055790.1:p.Tyr688His