Canonical Allele Identifier: CA3305741
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 3105531
ClinVar RCV Id: RCV004404372
dbSNP Id: rs753522932
ExAC: 5:73981228 T / C
gnomAD v2: 5-73981228-T-C
gnomAD v3: 5-74685403-T-C
gnomAD v4: 5-74685403-T-C
MyVariant Identifiers: chr5:g.73981228T>C (hg19) chr5:g.74685403T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685403T>C , CM000667.2:g.74685403T>C GRCh38
NC_000005.9:g.73981228T>C , CM000667.1:g.73981228T>C GRCh37
NC_000005.8:g.74016984T>C NCBI36
NG_009770.1:g.5260T>C
NG_009770.2:g.50381T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.143T>C MANE Select ENSP00000261416.7:p.Val48Ala
ENST00000261416.11:c.143T>C ENSP00000261416.7:p.Val48Ala
ENST00000511181.5:c.-376-3925T>C ENSP00000426285.1:n.-376-3925T>C
ENST00000513079.5:n.208T>C
ENST00000515528.1:n.198T>C
NM_000521.3:c.143T>C NP_000512.1:p.Val48Ala
NM_001292004.1:c.-376-3925T>C NP_001278933.1:n.-376-3925T>C
NM_000521.4:c.143T>C MANE Select NP_000512.2:p.Val48Ala
NM_001292004.2:c.-376-3925T>C NP_001278933.1:n.-376-3925T>C
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