Canonical Allele Identifier: CA631849006

Gene: MAST1 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12871177G>A , CM000681.2:g.12871177G>A	GRCh38
NC_000019.9:g.12981991G>A , CM000681.1:g.12981991G>A	GRCh37
NC_000019.8:g.12842991G>A	NCBI36
NG_054729.1:g.42247G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014975.3:c.3263+5G>A (MAST1) MANE Select	NP_055790.1:n.3263+5G>A
ENST00000251472.9:c.3263+5G>A (MAST1) MANE Select	ENSP00000251472.3:n.3263+5G>A
NM_014975.2:c.3263+5G>A (MAST1)	NP_055790.1:n.3263+5G>A
ENST00000251472.8:c.3263+5G>A (MAST1)	ENSP00000251472.3:n.3263+5G>A
ENST00000589765.1:n.32+1532C>T (HOOK2)
ENST00000590553.1:n.739+5G>A (MAST1)
XM_011527805.1:c.3251+5G>A (MAST1)	XP_011526107.1:n.3251+5G>A
XM_011527805.2:c.3251+5G>A (MAST1)	XP_011526107.1:n.3251+5G>A
XM_011527806.1:c.2975+5G>A (MAST1)	XP_011526108.1:n.2975+5G>A
XM_011527807.1:c.2735+5G>A (MAST1)	XP_011526109.1:n.2735+5G>A
XM_011527808.1:c.1931+5G>A (MAST1)	XP_011526110.1:n.1931+5G>A
XM_011527808.2:c.1931+5G>A (MAST1)	XP_011526110.1:n.1931+5G>A