Canonical Allele Identifier: CA2186761671

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376004G= , CM000677.2:g.72376004G=	GRCh38
NC_000015.9:g.72668345G= , CM000677.1:g.72668345G=	GRCh37
NC_000015.8:g.70455399G=	NCBI36
NG_009017.1:g.5176C=
NG_009017.2:g.5176C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683681.1:c.-32C=	ENSP00000508110.1:n.-32C=
ENST00000683860.1:c.-32C=	ENSP00000507179.1:n.-32C=
ENST00000684041.1:c.-32C=	ENSP00000508382.1:n.-32C=
ENST00000684520.1:c.-32C=	ENSP00000506826.1:n.-32C=
ENST00000268097.10:c.-32C= MANE Select	ENSP00000268097.6:n.-32C=
ENST00000268097.9:c.-32C=	ENSP00000268097.5:n.-32C=
ENST00000569509.5:n.147-173C=
NM_000520.4:c.-32C=	NP_000511.2:n.-32C=
NM_000520.5:c.-32C=	NP_000511.2:n.-32C=
NM_001318825.1:c.-32C=	NP_001305754.1:n.-32C=
NR_134869.1:n.470C=
NM_000520.6:c.-32C= MANE Select	NP_000511.2:n.-32C=
NM_001318825.2:c.-32C=	NP_001305754.1:n.-32C=
NR_134869.2:n.11C=
NR_134869.3:n.11C=