Canonical Allele Identifier: CA2186761752
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs2089065149
gnomAD v4: 15-72376059-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376059A>G , CM000677.2:g.72376059A>G GRCh38
NC_000015.9:g.72668400A>G , CM000677.1:g.72668400A>G GRCh37
NC_000015.8:g.70455454A>G NCBI36
NG_009017.1:g.5121T>C
NG_009017.2:g.5121T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-87T>C ENSP00000268097.5:n.-87T>C
ENST00000569509.5:n.146+216T>C
NM_000520.4:c.-87T>C NP_000511.2:n.-87T>C
NM_000520.5:c.-87T>C NP_000511.2:n.-87T>C
NM_001318825.1:c.-87T>C NP_001305754.1:n.-87T>C
NR_134869.1:n.415T>C
Search 100 bp 5'
Search 100 bp 3'