Canonical Allele Identifier: CA16231128
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 1269254
ClinVar RCV Id: RCV001680887
dbSNP Id: rs111363275
gnomAD v2: 5-73984952-C-A
gnomAD v3: 5-74689127-C-A
gnomAD v4: 5-74689127-C-A
MyVariant Identifiers: chr5:g.73984952C>A (hg19) chr5:g.74689127C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689127C>A , CM000667.2:g.74689127C>A GRCh38
NC_000005.9:g.73984952C>A , CM000667.1:g.73984952C>A GRCh37
NC_000005.8:g.74020708C>A NCBI36
NG_009770.1:g.8984C>A
NG_009770.2:g.54105C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-201C>A MANE Select ENSP00000261416.7:n.300-201C>A
ENST00000261416.11:c.300-201C>A ENSP00000261416.7:n.300-201C>A
ENST00000511181.5:c.-376-201C>A ENSP00000426285.1:n.-376-201C>A
ENST00000513079.5:n.365-201C>A
ENST00000515528.1:n.355-201C>A
NM_000521.3:c.300-201C>A NP_000512.1:n.300-201C>A
NM_001292004.1:c.-376-201C>A NP_001278933.1:n.-376-201C>A
NM_000521.4:c.300-201C>A MANE Select NP_000512.2:n.300-201C>A
NM_001292004.2:c.-376-201C>A NP_001278933.1:n.-376-201C>A
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