Canonical Allele Identifier: CA2575781391
Gene: HEXA HGNC NCBI

Linked Data

gnomAD v4: 15-72376028-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376028G>T , CM000677.2:g.72376028G>T GRCh38
NC_000015.9:g.72668369G>T , CM000677.1:g.72668369G>T GRCh37
NC_000015.8:g.70455423G>T NCBI36
NG_009017.1:g.5152C>A
NG_009017.2:g.5152C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-56C>A ENSP00000268097.5:n.-56C>A
ENST00000569509.5:n.147-197C>A
NM_000520.4:c.-56C>A NP_000511.2:n.-56C>A
NM_000520.5:c.-56C>A NP_000511.2:n.-56C>A
NM_001318825.1:c.-56C>A NP_001305754.1:n.-56C>A
NR_134869.1:n.446C>A
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