Canonical Allele Identifier: CA3306098

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718833A>G , CM000667.2:g.74718833A>G	GRCh38
NC_000005.9:g.74014658A>G , CM000667.1:g.74014658A>G	GRCh37
NC_000005.8:g.74050414A>G	NCBI36
NG_009770.1:g.38690A>G
NG_009770.2:g.83811A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1279A>G MANE Select	NP_000512.2:p.Ser427Gly
ENST00000261416.12:c.1279A>G MANE Select	ENSP00000261416.7:p.Ser427Gly
NM_000521.3:c.1279A>G	NP_000512.1:p.Ser427Gly
NM_001292004.1:c.604A>G	NP_001278933.1:p.Ser202Gly
NM_001292004.2:c.604A>G	NP_001278933.1:p.Ser202Gly
ENST00000261416.11:c.1279A>G	ENSP00000261416.7:p.Ser427Gly
ENST00000503312.5:c.155A>G
ENST00000504459.5:n.476A>G
ENST00000511181.5:c.604A>G	ENSP00000426285.1:p.Ser202Gly
ENST00000513336.5:c.215A>G
ENST00000513539.1:n.74-76A>G