Canonical Allele Identifier: CA2838530114

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689234A>G , CM000667.2:g.74689234A>G	GRCh38
NC_000005.9:g.73985059A>G , CM000667.1:g.73985059A>G	GRCh37
NC_000005.8:g.74020815A>G	NCBI36
NG_009770.1:g.9091A>G
NG_009770.2:g.54212A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.300-94A>G MANE Select	ENSP00000261416.7:n.300-94A>G
ENST00000261416.11:c.300-94A>G	ENSP00000261416.7:n.300-94A>G
ENST00000511181.5:c.-376-94A>G	ENSP00000426285.1:n.-376-94A>G
ENST00000513079.5:n.365-94A>G
ENST00000515528.1:n.355-94A>G
NM_000521.3:c.300-94A>G	NP_000512.1:n.300-94A>G
NM_001292004.1:c.-376-94A>G	NP_001278933.1:n.-376-94A>G
NM_000521.4:c.300-94A>G MANE Select	NP_000512.2:n.300-94A>G
NM_001292004.2:c.-376-94A>G	NP_001278933.1:n.-376-94A>G