Canonical Allele Identifier: CA2674237831
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 2997580
ClinVar RCV Id: RCV003854179
gnomAD v4: 5-74685576-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685576C>A , CM000667.2:g.74685576C>A GRCh38
NC_000005.9:g.73981401C>A , CM000667.1:g.73981401C>A GRCh37
NC_000005.8:g.74017157C>A NCBI36
NG_009770.1:g.5433C>A
NG_009770.2:g.50554C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.299+17C>A MANE Select ENSP00000261416.7:n.299+17C>A
ENST00000261416.11:c.299+17C>A ENSP00000261416.7:n.299+17C>A
ENST00000511181.5:c.-376-3752C>A ENSP00000426285.1:n.-376-3752C>A
ENST00000513079.5:n.364+17C>A
ENST00000515528.1:n.354+17C>A
NM_000521.3:c.299+17C>A NP_000512.1:n.299+17C>A
NM_001292004.1:c.-376-3752C>A NP_001278933.1:n.-376-3752C>A
NM_000521.4:c.299+17C>A MANE Select NP_000512.2:n.299+17C>A
NM_001292004.2:c.-376-3752C>A NP_001278933.1:n.-376-3752C>A
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