Canonical Allele Identifier: CA618961242
Gene: HEXA HGNC NCBI

Linked Data

dbSNP Id: rs143551545
gnomAD v2: 15-72668362-G-C
gnomAD v3: 15-72376021-G-C
gnomAD v4: 15-72376021-G-C
MyVariant Identifiers: chr15:g.72668362G>C (hg19) chr15:g.72376021G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72376021G>C , CM000677.2:g.72376021G>C GRCh38
NC_000015.9:g.72668362G>C , CM000677.1:g.72668362G>C GRCh37
NC_000015.8:g.70455416G>C NCBI36
NG_009017.1:g.5159C>G
NG_009017.2:g.5159C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000268097.9:c.-49C>G ENSP00000268097.5:n.-49C>G
ENST00000569509.5:n.147-190C>G
NM_000520.4:c.-49C>G NP_000511.2:n.-49C>G
NM_000520.5:c.-49C>G NP_000511.2:n.-49C>G
NM_001318825.1:c.-49C>G NP_001305754.1:n.-49C>G
NR_134869.1:n.453C>G
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