Canonical Allele Identifier: CA491133023
Gene: HEXA HGNC NCBI
HEXA-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1479101843
gnomAD v4: 15-72376116-T-A
MyVariant Identifiers: chr15:g.72668457T>A (hg19) chr15:g.72376116T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376116T>A , CM000677.2:g.72376116T>A GRCh38
NC_000015.9:g.72668457T>A , CM000677.1:g.72668457T>A GRCh37
NC_000015.8:g.70455511T>A NCBI36
NG_009017.1:g.5064A>T
NG_009017.2:g.5064A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-144A>T (HEXA) ENSP00000268097.5:n.-144A>T
ENST00000569509.5:n.146+159A>T (HEXA)
NM_000520.4:c.-144A>T (HEXA) NP_000511.2:n.-144A>T
NR_027262.1:n.4T>A (HEXA-AS1)
NM_000520.5:c.-144A>T (HEXA) NP_000511.2:n.-144A>T
NM_001318825.1:c.-144A>T (HEXA) NP_001305754.1:n.-144A>T
NR_134869.1:n.358A>T (HEXA)
Search 100 bp 5'
Search 100 bp 3'