Canonical Allele Identifier: CA2629343916
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376040C>T , CM000677.2:g.72376040C>T GRCh38
NC_000015.9:g.72668381C>T , CM000677.1:g.72668381C>T GRCh37
NC_000015.8:g.70455435C>T NCBI36
NG_009017.1:g.5140G>A
NG_009017.2:g.5140G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-68G>A ENSP00000268097.5:n.-68G>A
ENST00000569509.5:n.147-209G>A
NM_000520.4:c.-68G>A NP_000511.2:n.-68G>A
NM_000520.5:c.-68G>A NP_000511.2:n.-68G>A
NM_001318825.1:c.-68G>A NP_001305754.1:n.-68G>A
NR_134869.1:n.434G>A