Canonical Allele Identifier: CA444851254
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 1978581
ClinVar RCV Id: RCV002751056
MyVariant Identifiers: chr5:g.73985159T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689334T>C , CM000667.2:g.74689334T>C GRCh38
NC_000005.9:g.73985159T>C , CM000667.1:g.73985159T>C GRCh37
NC_000005.8:g.74020915T>C NCBI36
NG_009770.1:g.9191T>C
NG_009770.2:g.54312T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.306T>C MANE Select ENSP00000261416.7:p.His102=
ENST00000261416.11:c.306T>C ENSP00000261416.7:p.His102=
ENST00000511181.5:c.-370T>C ENSP00000426285.1:n.-370T>C
ENST00000513079.5:n.371T>C
ENST00000515528.1:n.361T>C
NM_000521.3:c.306T>C NP_000512.1:p.His102=
NM_001292004.1:c.-370T>C NP_001278933.1:n.-370T>C
NM_000521.4:c.306T>C MANE Select NP_000512.2:p.His102=
NM_001292004.2:c.-370T>C NP_001278933.1:n.-370T>C
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