Canonical Allele Identifier: CA1555779635

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689411T= , CM000667.2:g.74689411T=	GRCh38
NC_000005.9:g.73985236T= , CM000667.1:g.73985236T=	GRCh37
NC_000005.8:g.74020992T=	NCBI36
NG_009770.1:g.9268T=
NG_009770.2:g.54389T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.383T= MANE Select	ENSP00000261416.7:p.Leu128=
ENST00000261416.11:c.383T=	ENSP00000261416.7:p.Leu128=
ENST00000511181.5:c.-293T=	ENSP00000426285.1:n.-293T=
ENST00000513079.5:n.448T=
ENST00000515528.1:n.438T=
NM_000521.3:c.383T=	NP_000512.1:p.Leu128=
NM_001292004.1:c.-293T=	NP_001278933.1:n.-293T=
NM_000521.4:c.383T= MANE Select	NP_000512.2:p.Leu128=
NM_001292004.2:c.-293T=	NP_001278933.1:n.-293T=