Canonical Allele Identifier: CA2186761859
Gene: HEXA HGNC NCBI
HEXA-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376119C= , CM000677.2:g.72376119C= GRCh38
NC_000015.9:g.72668460C= , CM000677.1:g.72668460C= GRCh37
NC_000015.8:g.70455514C= NCBI36
NG_009017.1:g.5061G=
NG_009017.2:g.5061G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-147G= (HEXA) ENSP00000268097.5:n.-147G=
ENST00000569509.5:n.146+156G= (HEXA)
NM_000520.4:c.-147G= (HEXA) NP_000511.2:n.-147G=
NR_027262.1:n.7C= (HEXA-AS1)
NM_000520.5:c.-147G= (HEXA) NP_000511.2:n.-147G=
NM_001318825.1:c.-147G= (HEXA) NP_001305754.1:n.-147G=
NR_134869.1:n.355G= (HEXA)
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