Canonical Allele Identifier: CA2575781401
Gene: HEXA HGNC NCBI

Linked Data

gnomAD v4: 15-72376110-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376110G>C , CM000677.2:g.72376110G>C GRCh38
NC_000015.9:g.72668451G>C , CM000677.1:g.72668451G>C GRCh37
NC_000015.8:g.70455505G>C NCBI36
NG_009017.1:g.5070C>G
NG_009017.2:g.5070C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-138C>G ENSP00000268097.5:n.-138C>G
ENST00000569509.5:n.146+165C>G
NM_000520.4:c.-138C>G NP_000511.2:n.-138C>G
NM_000520.5:c.-138C>G NP_000511.2:n.-138C>G
NM_001318825.1:c.-138C>G NP_001305754.1:n.-138C>G
NR_134869.1:n.364C>G
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