Canonical Allele Identifier: CA404283950

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12869281C>T , CM000681.2:g.12869281C>T	GRCh38
NC_000019.9:g.12980095C>T , CM000681.1:g.12980095C>T	GRCh37
NC_000019.8:g.12841095C>T	NCBI36
NG_054729.1:g.40351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251472.9:c.2989C>T (MAST1) MANE Select	ENSP00000251472.3:p.His997Tyr
ENST00000251472.8:c.2989C>T (MAST1)	ENSP00000251472.3:p.His997Tyr
ENST00000589765.1:n.32+3428G>A (HOOK2)
ENST00000590553.1:n.465C>T (MAST1)
NM_014975.2:c.2989C>T (MAST1)	NP_055790.1:p.His997Tyr
XM_011527805.1:c.2977C>T (MAST1)	XP_011526107.1:p.His993Tyr
XM_011527806.1:c.2701C>T (MAST1)	XP_011526108.1:p.His901Tyr
XM_011527807.1:c.2461C>T (MAST1)	XP_011526109.1:p.His821Tyr
XM_011527808.1:c.1657C>T (MAST1)	XP_011526110.1:p.His553Tyr
XM_011527805.2:c.2977C>T (MAST1)	XP_011526107.1:p.His993Tyr
XM_011527808.2:c.1657C>T (MAST1)	XP_011526110.1:p.His553Tyr
NM_014975.3:c.2989C>T (MAST1) MANE Select	NP_055790.1:p.His997Tyr