Canonical Allele Identifier: CA120898768
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 1993858
ClinVar RCV Id: RCV002806423
dbSNP Id: rs868106940
MyVariant Identifiers: chr5:g.73981181G>C (hg19) chr5:g.74685356G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685356G>C , CM000667.2:g.74685356G>C GRCh38
NC_000005.9:g.73981181G>C , CM000667.1:g.73981181G>C GRCh37
NC_000005.8:g.74016937G>C NCBI36
NG_009770.1:g.5213G>C
NG_009770.2:g.50334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.96G>C MANE Select ENSP00000261416.7:p.Gln32His
ENST00000261416.11:c.96G>C ENSP00000261416.7:p.Gln32His
ENST00000511181.5:c.-376-3972G>C ENSP00000426285.1:n.-376-3972G>C
ENST00000513079.5:n.161G>C
ENST00000515528.1:n.151G>C
NM_000521.3:c.96G>C NP_000512.1:p.Gln32His
NM_001292004.1:c.-376-3972G>C NP_001278933.1:n.-376-3972G>C
NM_000521.4:c.96G>C MANE Select NP_000512.2:p.Gln32His
NM_001292004.2:c.-376-3972G>C NP_001278933.1:n.-376-3972G>C
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