Canonical Allele Identifier: CA2629344025
Gene: HEXA HGNC NCBI

Linked Data

gnomAD v4: 15-72376099-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376099A>C , CM000677.2:g.72376099A>C GRCh38
NC_000015.9:g.72668440A>C , CM000677.1:g.72668440A>C GRCh37
NC_000015.8:g.70455494A>C NCBI36
NG_009017.1:g.5081T>G
NG_009017.2:g.5081T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-127T>G ENSP00000268097.5:n.-127T>G
ENST00000569509.5:n.146+176T>G
NM_000520.4:c.-127T>G NP_000511.2:n.-127T>G
NM_000520.5:c.-127T>G NP_000511.2:n.-127T>G
NM_001318825.1:c.-127T>G NP_001305754.1:n.-127T>G
NR_134869.1:n.375T>G
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