Canonical Allele Identifier: CA272631666
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs1008350819
gnomAD v4: 15-72376100-C-T
MyVariant Identifiers: chr15:g.72668441C>T (hg19) chr15:g.72376100C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376100C>T , CM000677.2:g.72376100C>T GRCh38
NC_000015.9:g.72668441C>T , CM000677.1:g.72668441C>T GRCh37
NC_000015.8:g.70455495C>T NCBI36
NG_009017.1:g.5080G>A
NG_009017.2:g.5080G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-128G>A ENSP00000268097.5:n.-128G>A
ENST00000569509.5:n.146+175G>A
NM_000520.4:c.-128G>A NP_000511.2:n.-128G>A
NM_000520.5:c.-128G>A NP_000511.2:n.-128G>A
NM_001318825.1:c.-128G>A NP_001305754.1:n.-128G>A
NR_134869.1:n.374G>A
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