Canonical Allele Identifier: CA1555779296

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689112C= , CM000667.2:g.74689112C=	GRCh38
NC_000005.9:g.73984937C= , CM000667.1:g.73984937C=	GRCh37
NC_000005.8:g.74020693C=	NCBI36
NG_009770.1:g.8969C=
NG_009770.2:g.54090C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.300-216C= MANE Select	ENSP00000261416.7:n.300-216C=
ENST00000261416.11:c.300-216C=	ENSP00000261416.7:n.300-216C=
ENST00000511181.5:c.-376-216C=	ENSP00000426285.1:n.-376-216C=
ENST00000513079.5:n.365-216C=
ENST00000515528.1:n.355-216C=
NM_000521.3:c.300-216C=	NP_000512.1:n.300-216C=
NM_001292004.1:c.-376-216C=	NP_001278933.1:n.-376-216C=
NM_000521.4:c.300-216C= MANE Select	NP_000512.2:n.300-216C=
NM_001292004.2:c.-376-216C=	NP_001278933.1:n.-376-216C=