Canonical Allele Identifier: CA2629343892
Gene: HEXA HGNC NCBI

Linked Data

gnomAD v4: 15-72376035-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376035G>A , CM000677.2:g.72376035G>A GRCh38
NC_000015.9:g.72668376G>A , CM000677.1:g.72668376G>A GRCh37
NC_000015.8:g.70455430G>A NCBI36
NG_009017.1:g.5145C>T
NG_009017.2:g.5145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-63C>T ENSP00000268097.5:n.-63C>T
ENST00000569509.5:n.147-204C>T
NM_000520.4:c.-63C>T NP_000511.2:n.-63C>T
NM_000520.5:c.-63C>T NP_000511.2:n.-63C>T
NM_001318825.1:c.-63C>T NP_001305754.1:n.-63C>T
NR_134869.1:n.439C>T
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