Canonical Allele Identifier: CA491133032
Gene: HEXA HGNC NCBI
HEXA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72668459A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376118A>T , CM000677.2:g.72376118A>T GRCh38
NC_000015.9:g.72668459A>T , CM000677.1:g.72668459A>T GRCh37
NC_000015.8:g.70455513A>T NCBI36
NG_009017.1:g.5062T>A
NG_009017.2:g.5062T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-146T>A (HEXA) ENSP00000268097.5:n.-146T>A
ENST00000569509.5:n.146+157T>A (HEXA)
NM_000520.4:c.-146T>A (HEXA) NP_000511.2:n.-146T>A
NR_027262.1:n.6A>T (HEXA-AS1)
NM_000520.5:c.-146T>A (HEXA) NP_000511.2:n.-146T>A
NM_001318825.1:c.-146T>A (HEXA) NP_001305754.1:n.-146T>A
NR_134869.1:n.356T>A (HEXA)
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