Canonical Allele Identifier: CA1555779638

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689418A= , CM000667.2:g.74689418A=	GRCh38
NC_000005.9:g.73985243A= , CM000667.1:g.73985243A=	GRCh37
NC_000005.8:g.74020999A=	NCBI36
NG_009770.1:g.9275A=
NG_009770.2:g.54396A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.390A= MANE Select	ENSP00000261416.7:p.Ser130=
ENST00000261416.11:c.390A=	ENSP00000261416.7:p.Ser130=
ENST00000511181.5:c.-286A=	ENSP00000426285.1:n.-286A=
ENST00000513079.5:n.455A=
ENST00000515528.1:n.445A=
NM_000521.3:c.390A=	NP_000512.1:p.Ser130=
NM_001292004.1:c.-286A=	NP_001278933.1:n.-286A=
NM_000521.4:c.390A= MANE Select	NP_000512.2:p.Ser130=
NM_001292004.2:c.-286A=	NP_001278933.1:n.-286A=