Canonical Allele Identifier: CA10642533
Gene: HEXA HGNC NCBI
HEXA-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 317052
ClinVar RCV Id: RCV000383739
dbSNP Id: rs886051462
gnomAD v2: 15-72668454-C-T
gnomAD v3: 15-72376113-C-T
gnomAD v4: 15-72376113-C-T
MyVariant Identifiers: chr15:g.72668454C>T (hg19) chr15:g.72376113C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376113C>T , CM000677.2:g.72376113C>T GRCh38
NC_000015.9:g.72668454C>T , CM000677.1:g.72668454C>T GRCh37
NC_000015.8:g.70455508C>T NCBI36
NG_009017.1:g.5067G>A
NG_009017.2:g.5067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-141G>A (HEXA) ENSP00000268097.5:n.-141G>A
ENST00000569509.5:n.146+162G>A (HEXA)
NM_000520.4:c.-141G>A (HEXA) NP_000511.2:n.-141G>A
NR_027262.1:n.1C>T (HEXA-AS1)
NM_000520.5:c.-141G>A (HEXA) NP_000511.2:n.-141G>A
NM_001318825.1:c.-141G>A (HEXA) NP_001305754.1:n.-141G>A
NR_134869.1:n.361G>A (HEXA)
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