Canonical Allele Identifier: CA272631538
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs755843421
gnomAD v2: 15-72668371-G-A
gnomAD v3: 15-72376030-G-A
gnomAD v4: 15-72376030-G-A
MyVariant Identifiers: chr15:g.72668371G>A (hg19) chr15:g.72376030G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376030G>A , CM000677.2:g.72376030G>A GRCh38
NC_000015.9:g.72668371G>A , CM000677.1:g.72668371G>A GRCh37
NC_000015.8:g.70455425G>A NCBI36
NG_009017.1:g.5150C>T
NG_009017.2:g.5150C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-58C>T ENSP00000268097.5:n.-58C>T
ENST00000569509.5:n.147-199C>T
NM_000520.4:c.-58C>T NP_000511.2:n.-58C>T
NM_000520.5:c.-58C>T NP_000511.2:n.-58C>T
NM_001318825.1:c.-58C>T NP_001305754.1:n.-58C>T
NR_134869.1:n.444C>T
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