Canonical Allele Identifier: CA360069282

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74716648A>T , CM000667.2:g.74716648A>T	GRCh38
NC_000005.9:g.74012473A>T , CM000667.1:g.74012473A>T	GRCh37
NC_000005.8:g.74048229A>T	NCBI36
NG_009770.1:g.36505A>T
NG_009770.2:g.81626A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1144A>T MANE Select	NP_000512.2:p.Lys382Ter
ENST00000261416.12:c.1144A>T MANE Select	ENSP00000261416.7:p.Lys382Ter
NM_000521.3:c.1144A>T	NP_000512.1:p.Lys382Ter
NM_001292004.1:c.469A>T	NP_001278933.1:p.Lys157Ter
NM_001292004.2:c.469A>T	NP_001278933.1:p.Lys157Ter
ENST00000261416.11:c.1144A>T	ENSP00000261416.7:p.Lys382Ter
ENST00000503312.5:c.20A>T
ENST00000504459.5:n.341A>T
ENST00000511181.5:c.469A>T	ENSP00000426285.1:p.Lys157Ter
ENST00000511621.1:n.107A>T
ENST00000513336.5:c.105+958A>T