Canonical Allele Identifier: CA491133045
Gene: HEXA HGNC NCBI
HEXA-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72668463C>G (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-150G>C (HEXA) ENSP00000268097.5:n.-150G>C
ENST00000569509.5:n.146+153G>C (HEXA)
NM_000520.4:c.-150G>C (HEXA) NP_000511.2:n.-150G>C
NR_027262.1:n.10C>G (HEXA-AS1)
NM_000520.5:c.-150G>C (HEXA) NP_000511.2:n.-150G>C
NM_001318825.1:c.-150G>C (HEXA) NP_001305754.1:n.-150G>C
NR_134869.1:n.352G>C (HEXA)
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