Canonical Allele Identifier: CA2186761674

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376006C= , CM000677.2:g.72376006C=	GRCh38
NC_000015.9:g.72668347C= , CM000677.1:g.72668347C=	GRCh37
NC_000015.8:g.70455401C=	NCBI36
NG_009017.1:g.5174G=
NG_009017.2:g.5174G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683681.1:c.-34G=	ENSP00000508110.1:n.-34G=
ENST00000683860.1:c.-34G=	ENSP00000507179.1:n.-34G=
ENST00000684041.1:c.-34G=	ENSP00000508382.1:n.-34G=
ENST00000684520.1:c.-34G=	ENSP00000506826.1:n.-34G=
ENST00000268097.10:c.-34G= MANE Select	ENSP00000268097.6:n.-34G=
ENST00000268097.9:c.-34G=	ENSP00000268097.5:n.-34G=
ENST00000569509.5:n.147-175G=
NM_000520.4:c.-34G=	NP_000511.2:n.-34G=
NM_000520.5:c.-34G=	NP_000511.2:n.-34G=
NM_001318825.1:c.-34G=	NP_001305754.1:n.-34G=
NR_134869.1:n.468G=
NM_000520.6:c.-34G= MANE Select	NP_000511.2:n.-34G=
NM_001318825.2:c.-34G=	NP_001305754.1:n.-34G=
NR_134869.2:n.9G=
NR_134869.3:n.9G=