Canonical Allele Identifier: CA2186761683

Gene: HEXA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376009C= , CM000677.2:g.72376009C=	GRCh38
NC_000015.9:g.72668350C= , CM000677.1:g.72668350C=	GRCh37
NC_000015.8:g.70455404C=	NCBI36
NG_009017.1:g.5171G=
NG_009017.2:g.5171G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683681.1:c.-37G=	ENSP00000508110.1:n.-37G=
ENST00000683860.1:c.-37G=	ENSP00000507179.1:n.-37G=
ENST00000684041.1:c.-37G=	ENSP00000508382.1:n.-37G=
ENST00000684520.1:c.-37G=	ENSP00000506826.1:n.-37G=
ENST00000268097.10:c.-37G= MANE Select	ENSP00000268097.6:n.-37G=
ENST00000268097.9:c.-37G=	ENSP00000268097.5:n.-37G=
ENST00000569509.5:n.147-178G=
NM_000520.4:c.-37G=	NP_000511.2:n.-37G=
NM_000520.5:c.-37G=	NP_000511.2:n.-37G=
NM_001318825.1:c.-37G=	NP_001305754.1:n.-37G=
NR_134869.1:n.465G=
NM_000520.6:c.-37G= MANE Select	NP_000511.2:n.-37G=
NM_001318825.2:c.-37G=	NP_001305754.1:n.-37G=
NR_134869.2:n.6G=
NR_134869.3:n.6G=