Canonical Allele Identifier: CA120899016
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 2890001
ClinVar RCV Id: RCV003610815
dbSNP Id: rs1000929504
gnomAD v2: 5-73981398-G-A
gnomAD v3: 5-74685573-G-A
gnomAD v4: 5-74685573-G-A
MyVariant Identifiers: chr5:g.73981398G>A (hg19) chr5:g.74685573G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685573G>A , CM000667.2:g.74685573G>A GRCh38
NC_000005.9:g.73981398G>A , CM000667.1:g.73981398G>A GRCh37
NC_000005.8:g.74017154G>A NCBI36
NG_009770.1:g.5430G>A
NG_009770.2:g.50551G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.299+14G>A MANE Select ENSP00000261416.7:n.299+14G>A
ENST00000261416.11:c.299+14G>A ENSP00000261416.7:n.299+14G>A
ENST00000511181.5:c.-376-3755G>A ENSP00000426285.1:n.-376-3755G>A
ENST00000513079.5:n.364+14G>A
ENST00000515528.1:n.354+14G>A
NM_000521.3:c.299+14G>A NP_000512.1:n.299+14G>A
NM_001292004.1:c.-376-3755G>A NP_001278933.1:n.-376-3755G>A
NM_000521.4:c.299+14G>A MANE Select NP_000512.2:n.299+14G>A
NM_001292004.2:c.-376-3755G>A NP_001278933.1:n.-376-3755G>A
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