Canonical Allele Identifier: CA2629343852
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376025G>C , CM000677.2:g.72376025G>C GRCh38
NC_000015.9:g.72668366G>C , CM000677.1:g.72668366G>C GRCh37
NC_000015.8:g.70455420G>C NCBI36
NG_009017.1:g.5155C>G
NG_009017.2:g.5155C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-53C>G ENSP00000268097.5:n.-53C>G
ENST00000569509.5:n.147-194C>G
NM_000520.4:c.-53C>G NP_000511.2:n.-53C>G
NM_000520.5:c.-53C>G NP_000511.2:n.-53C>G
NM_001318825.1:c.-53C>G NP_001305754.1:n.-53C>G
NR_134869.1:n.449C>G