Canonical Allele Identifier: CA360069340

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74716674G>A , CM000667.2:g.74716674G>A	GRCh38
NC_000005.9:g.74012499G>A , CM000667.1:g.74012499G>A	GRCh37
NC_000005.8:g.74048255G>A	NCBI36
NG_009770.1:g.36531G>A
NG_009770.2:g.81652G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1169+1G>A MANE Select	NP_000512.2:n.1169+1G>A
ENST00000261416.12:c.1169+1G>A MANE Select	ENSP00000261416.7:n.1169+1G>A
NM_000521.3:c.1169+1G>A	NP_000512.1:n.1169+1G>A
NM_001292004.1:c.494+1G>A	NP_001278933.1:n.494+1G>A
NM_001292004.2:c.494+1G>A	NP_001278933.1:n.494+1G>A
ENST00000261416.11:c.1169+1G>A	ENSP00000261416.7:n.1169+1G>A
ENST00000503312.5:c.45+1G>A
ENST00000504459.5:n.366+1G>A
ENST00000511181.5:c.494+1G>A	ENSP00000426285.1:n.494+1G>A
ENST00000511621.1:n.133G>A
ENST00000513336.5:c.105+984G>A