Canonical Allele Identifier: CA2629343888
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376033G>C , CM000677.2:g.72376033G>C GRCh38
NC_000015.9:g.72668374G>C , CM000677.1:g.72668374G>C GRCh37
NC_000015.8:g.70455428G>C NCBI36
NG_009017.1:g.5147C>G
NG_009017.2:g.5147C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-61C>G ENSP00000268097.5:n.-61C>G
ENST00000569509.5:n.147-202C>G
NM_000520.4:c.-61C>G NP_000511.2:n.-61C>G
NM_000520.5:c.-61C>G NP_000511.2:n.-61C>G
NM_001318825.1:c.-61C>G NP_001305754.1:n.-61C>G
NR_134869.1:n.441C>G