Canonical Allele Identifier: CA272631527
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs779029124
gnomAD v4: 15-72376018-C-A
MyVariant Identifiers: chr15:g.72668359C>A (hg19) chr15:g.72376018C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376018C>A , CM000677.2:g.72376018C>A GRCh38
NC_000015.9:g.72668359C>A , CM000677.1:g.72668359C>A GRCh37
NC_000015.8:g.70455413C>A NCBI36
NG_009017.1:g.5162G>T
NG_009017.2:g.5162G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-46G>T ENSP00000268097.5:n.-46G>T
ENST00000569509.5:n.147-187G>T
NM_000520.4:c.-46G>T NP_000511.2:n.-46G>T
NM_000520.5:c.-46G>T NP_000511.2:n.-46G>T
NM_001318825.1:c.-46G>T NP_001305754.1:n.-46G>T
NR_134869.1:n.456G>T
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