Canonical Allele Identifier: CA2629343947
Gene: HEXA HGNC NCBI

Linked Data

gnomAD v4: 15-72376057-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376057T>C , CM000677.2:g.72376057T>C GRCh38
NC_000015.9:g.72668398T>C , CM000677.1:g.72668398T>C GRCh37
NC_000015.8:g.70455452T>C NCBI36
NG_009017.1:g.5123A>G
NG_009017.2:g.5123A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-85A>G ENSP00000268097.5:n.-85A>G
ENST00000569509.5:n.146+218A>G
NM_000520.4:c.-85A>G NP_000511.2:n.-85A>G
NM_000520.5:c.-85A>G NP_000511.2:n.-85A>G
NM_001318825.1:c.-85A>G NP_001305754.1:n.-85A>G
NR_134869.1:n.417A>G
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