Canonical Allele Identifier: CA2629344028
Gene: HEXA HGNC NCBI

Linked Data

gnomAD v4: 15-72376102-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376102C>G , CM000677.2:g.72376102C>G GRCh38
NC_000015.9:g.72668443C>G , CM000677.1:g.72668443C>G GRCh37
NC_000015.8:g.70455497C>G NCBI36
NG_009017.1:g.5078G>C
NG_009017.2:g.5078G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-130G>C ENSP00000268097.5:n.-130G>C
ENST00000569509.5:n.146+173G>C
NM_000520.4:c.-130G>C NP_000511.2:n.-130G>C
NM_000520.5:c.-130G>C NP_000511.2:n.-130G>C
NM_001318825.1:c.-130G>C NP_001305754.1:n.-130G>C
NR_134869.1:n.372G>C
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