Canonical Allele Identifier: CA2840445253

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376007C>A , CM000677.2:g.72376007C>A	GRCh38
NC_000015.9:g.72668348C>A , CM000677.1:g.72668348C>A	GRCh37
NC_000015.8:g.70455402C>A	NCBI36
NG_009017.1:g.5173G>T
NG_009017.2:g.5173G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683681.1:c.-35G>T	ENSP00000508110.1:n.-35G>T
ENST00000683860.1:c.-35G>T	ENSP00000507179.1:n.-35G>T
ENST00000684041.1:c.-35G>T	ENSP00000508382.1:n.-35G>T
ENST00000684520.1:c.-35G>T	ENSP00000506826.1:n.-35G>T
ENST00000268097.10:c.-35G>T MANE Select	ENSP00000268097.6:n.-35G>T
ENST00000268097.9:c.-35G>T	ENSP00000268097.5:n.-35G>T
ENST00000569509.5:n.147-176G>T
NM_000520.4:c.-35G>T	NP_000511.2:n.-35G>T
NM_000520.5:c.-35G>T	NP_000511.2:n.-35G>T
NM_001318825.1:c.-35G>T	NP_001305754.1:n.-35G>T
NR_134869.1:n.467G>T
NM_000520.6:c.-35G>T MANE Select	NP_000511.2:n.-35G>T
NM_001318825.2:c.-35G>T	NP_001305754.1:n.-35G>T
NR_134869.2:n.8G>T
NR_134869.3:n.8G>T