Canonical Allele Identifier: CA560766119
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 2875921
ClinVar RCV Id: RCV003610620
dbSNP Id: rs1330683505
gnomAD v2: 5-73981401-C-G
gnomAD v4: 5-74685576-C-G
MyVariant Identifiers: chr5:g.73981401C>G (hg19) chr5:g.74685576C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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