Canonical Allele Identifier: CA491133073
Gene: HEXA HGNC NCBI
HEXA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72668470G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376129G>A , CM000677.2:g.72376129G>A GRCh38
NC_000015.9:g.72668470G>A , CM000677.1:g.72668470G>A GRCh37
NC_000015.8:g.70455524G>A NCBI36
NG_009017.1:g.5051C>T
NG_009017.2:g.5051C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-157C>T (HEXA) ENSP00000268097.5:n.-157C>T
ENST00000569509.5:n.146+146C>T (HEXA)
NM_000520.4:c.-157C>T (HEXA) NP_000511.2:n.-157C>T
NR_027262.1:n.17G>A (HEXA-AS1)
NM_000520.5:c.-157C>T (HEXA) NP_000511.2:n.-157C>T
NM_001318825.1:c.-157C>T (HEXA) NP_001305754.1:n.-157C>T
NR_134869.1:n.345C>T (HEXA)
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