Canonical Allele Identifier: CA2186761745
Gene: HEXA HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376052G= , CM000677.2:g.72376052G= GRCh38
NC_000015.9:g.72668393G= , CM000677.1:g.72668393G= GRCh37
NC_000015.8:g.70455447G= NCBI36
NG_009017.1:g.5128C=
NG_009017.2:g.5128C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-80C= ENSP00000268097.5:n.-80C=
ENST00000569509.5:n.147-221C=
NM_000520.4:c.-80C= NP_000511.2:n.-80C=
NM_000520.5:c.-80C= NP_000511.2:n.-80C=
NM_001318825.1:c.-80C= NP_001305754.1:n.-80C=
NR_134869.1:n.422C=
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