Canonical Allele Identifier: CA1555776700
Gene: HEXB HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685571C= , CM000667.2:g.74685571C= GRCh38
NC_000005.9:g.73981396C= , CM000667.1:g.73981396C= GRCh37
NC_000005.8:g.74017152C= NCBI36
NG_009770.1:g.5428C=
NG_009770.2:g.50549C=

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.299+12C= MANE Select ENSP00000261416.7:n.299+12C=
ENST00000261416.11:c.299+12C= ENSP00000261416.7:n.299+12C=
ENST00000511181.5:c.-376-3757C= ENSP00000426285.1:n.-376-3757C=
ENST00000513079.5:n.364+12C=
ENST00000515528.1:n.354+12C=
NM_000521.3:c.299+12C= NP_000512.1:n.299+12C=
NM_001292004.1:c.-376-3757C= NP_001278933.1:n.-376-3757C=
NM_000521.4:c.299+12C= MANE Select NP_000512.2:n.299+12C=
NM_001292004.2:c.-376-3757C= NP_001278933.1:n.-376-3757C=
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