Canonical Allele Identifier: CA2629343928
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376049T>C , CM000677.2:g.72376049T>C GRCh38
NC_000015.9:g.72668390T>C , CM000677.1:g.72668390T>C GRCh37
NC_000015.8:g.70455444T>C NCBI36
NG_009017.1:g.5131A>G
NG_009017.2:g.5131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-77A>G ENSP00000268097.5:n.-77A>G
ENST00000569509.5:n.147-218A>G
NM_000520.4:c.-77A>G NP_000511.2:n.-77A>G
NM_000520.5:c.-77A>G NP_000511.2:n.-77A>G
NM_001318825.1:c.-77A>G NP_001305754.1:n.-77A>G
NR_134869.1:n.425A>G