Canonical Allele Identifier: CA360063028
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73985232C>A (hg19) chr5:g.74689407C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689407C>A , CM000667.2:g.74689407C>A GRCh38
NC_000005.9:g.73985232C>A , CM000667.1:g.73985232C>A GRCh37
NC_000005.8:g.74020988C>A NCBI36
NG_009770.1:g.9264C>A
NG_009770.2:g.54385C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.379C>A MANE Select ENSP00000261416.7:p.Leu127Ile
ENST00000261416.11:c.379C>A ENSP00000261416.7:p.Leu127Ile
ENST00000511181.5:c.-297C>A ENSP00000426285.1:n.-297C>A
ENST00000513079.5:n.444C>A
ENST00000515528.1:n.434C>A
NM_000521.3:c.379C>A NP_000512.1:p.Leu127Ile
NM_001292004.1:c.-297C>A NP_001278933.1:n.-297C>A
NM_000521.4:c.379C>A MANE Select NP_000512.2:p.Leu127Ile
NM_001292004.2:c.-297C>A NP_001278933.1:n.-297C>A
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