Canonical Allele Identifier: CA1555776578

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685479C= , CM000667.2:g.74685479C=	GRCh38
NC_000005.9:g.73981304C= , CM000667.1:g.73981304C=	GRCh37
NC_000005.8:g.74017060C=	NCBI36
NG_009770.1:g.5336C=
NG_009770.2:g.50457C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.219C= MANE Select	ENSP00000261416.7:p.Ala73=
ENST00000261416.11:c.219C=	ENSP00000261416.7:p.Ala73=
ENST00000511181.5:c.-376-3849C=	ENSP00000426285.1:n.-376-3849C=
ENST00000513079.5:n.284C=
ENST00000515528.1:n.274C=
NM_000521.3:c.219C=	NP_000512.1:p.Ala73=
NM_001292004.1:c.-376-3849C=	NP_001278933.1:n.-376-3849C=
NM_000521.4:c.219C= MANE Select	NP_000512.2:p.Ala73=
NM_001292004.2:c.-376-3849C=	NP_001278933.1:n.-376-3849C=