Canonical Allele Identifier: CA1555776520

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685466T= , CM000667.2:g.74685466T=	GRCh38
NC_000005.9:g.73981291T= , CM000667.1:g.73981291T=	GRCh37
NC_000005.8:g.74017047T=	NCBI36
NG_009770.1:g.5323T=
NG_009770.2:g.50444T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.206T= MANE Select	ENSP00000261416.7:p.Leu69=
ENST00000261416.11:c.206T=	ENSP00000261416.7:p.Leu69=
ENST00000511181.5:c.-376-3862T=	ENSP00000426285.1:n.-376-3862T=
ENST00000513079.5:n.271T=
ENST00000515528.1:n.261T=
NM_000521.3:c.206T=	NP_000512.1:p.Leu69=
NM_001292004.1:c.-376-3862T=	NP_001278933.1:n.-376-3862T=
NM_000521.4:c.206T= MANE Select	NP_000512.2:p.Leu69=
NM_001292004.2:c.-376-3862T=	NP_001278933.1:n.-376-3862T=