Canonical Allele Identifier: CA491133046
Gene: HEXA HGNC NCBI
HEXA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72668463C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376122C>T , CM000677.2:g.72376122C>T GRCh38
NC_000015.9:g.72668463C>T , CM000677.1:g.72668463C>T GRCh37
NC_000015.8:g.70455517C>T NCBI36
NG_009017.1:g.5058G>A
NG_009017.2:g.5058G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-150G>A (HEXA) ENSP00000268097.5:n.-150G>A
ENST00000569509.5:n.146+153G>A (HEXA)
NM_000520.4:c.-150G>A (HEXA) NP_000511.2:n.-150G>A
NR_027262.1:n.10C>T (HEXA-AS1)
NM_000520.5:c.-150G>A (HEXA) NP_000511.2:n.-150G>A
NM_001318825.1:c.-150G>A (HEXA) NP_001305754.1:n.-150G>A
NR_134869.1:n.352G>A (HEXA)
Search 100 bp 5'
Search 100 bp 3'