Canonical Allele Identifier: CA2629343967
Gene: HEXA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376069A>G , CM000677.2:g.72376069A>G GRCh38
NC_000015.9:g.72668410A>G , CM000677.1:g.72668410A>G GRCh37
NC_000015.8:g.70455464A>G NCBI36
NG_009017.1:g.5111T>C
NG_009017.2:g.5111T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-97T>C ENSP00000268097.5:n.-97T>C
ENST00000569509.5:n.146+206T>C
NM_000520.4:c.-97T>C NP_000511.2:n.-97T>C
NM_000520.5:c.-97T>C NP_000511.2:n.-97T>C
NM_001318825.1:c.-97T>C NP_001305754.1:n.-97T>C
NR_134869.1:n.405T>C