Canonical Allele Identifier: CA360063037
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73985236T>A (hg19) chr5:g.74689411T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689411T>A , CM000667.2:g.74689411T>A GRCh38
NC_000005.9:g.73985236T>A , CM000667.1:g.73985236T>A GRCh37
NC_000005.8:g.74020992T>A NCBI36
NG_009770.1:g.9268T>A
NG_009770.2:g.54389T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.383T>A MANE Select ENSP00000261416.7:p.Leu128His
ENST00000261416.11:c.383T>A ENSP00000261416.7:p.Leu128His
ENST00000511181.5:c.-293T>A ENSP00000426285.1:n.-293T>A
ENST00000513079.5:n.448T>A
ENST00000515528.1:n.438T>A
NM_000521.3:c.383T>A NP_000512.1:p.Leu128His
NM_001292004.1:c.-293T>A NP_001278933.1:n.-293T>A
NM_000521.4:c.383T>A MANE Select NP_000512.2:p.Leu128His
NM_001292004.2:c.-293T>A NP_001278933.1:n.-293T>A
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