Canonical Allele Identifier: CA3305783
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 2732807
ClinVar RCV Id: RCV003504468
dbSNP Id: rs767991707
ExAC: 5:73981396 C / T
gnomAD v2: 5-73981396-C-T
gnomAD v3: 5-74685571-C-T
gnomAD v4: 5-74685571-C-T
MyVariant Identifiers: chr5:g.73981396C>T (hg19) chr5:g.74685571C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685571C>T , CM000667.2:g.74685571C>T GRCh38
NC_000005.9:g.73981396C>T , CM000667.1:g.73981396C>T GRCh37
NC_000005.8:g.74017152C>T NCBI36
NG_009770.1:g.5428C>T
NG_009770.2:g.50549C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.299+12C>T MANE Select ENSP00000261416.7:n.299+12C>T
ENST00000261416.11:c.299+12C>T ENSP00000261416.7:n.299+12C>T
ENST00000511181.5:c.-376-3757C>T ENSP00000426285.1:n.-376-3757C>T
ENST00000513079.5:n.364+12C>T
ENST00000515528.1:n.354+12C>T
NM_000521.3:c.299+12C>T NP_000512.1:n.299+12C>T
NM_001292004.1:c.-376-3757C>T NP_001278933.1:n.-376-3757C>T
NM_000521.4:c.299+12C>T MANE Select NP_000512.2:n.299+12C>T
NM_001292004.2:c.-376-3757C>T NP_001278933.1:n.-376-3757C>T
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