Canonical Allele Identifier: CA1555776806
Gene: HEXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685675C= , CM000667.2:g.74685675C= GRCh38
NC_000005.9:g.73981500C= , CM000667.1:g.73981500C= GRCh37
NC_000005.8:g.74017256C= NCBI36
NG_009770.1:g.5532C=
NG_009770.2:g.50653C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.299+116C= MANE Select ENSP00000261416.7:n.299+116C=
ENST00000261416.11:c.299+116C= ENSP00000261416.7:n.299+116C=
ENST00000511181.5:c.-376-3653C= ENSP00000426285.1:n.-376-3653C=
ENST00000513079.5:n.364+116C=
ENST00000515528.1:n.354+116C=
NM_000521.3:c.299+116C= NP_000512.1:n.299+116C=
NM_001292004.1:c.-376-3653C= NP_001278933.1:n.-376-3653C=
NM_000521.4:c.299+116C= MANE Select NP_000512.2:n.299+116C=
NM_001292004.2:c.-376-3653C= NP_001278933.1:n.-376-3653C=
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