Canonical Allele Identifier: CA120907358

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74716915C>T , CM000667.2:g.74716915C>T	GRCh38
NC_000005.9:g.74012740C>T , CM000667.1:g.74012740C>T	GRCh37
NC_000005.8:g.74048496C>T	NCBI36
NG_009770.1:g.36772C>T
NG_009770.2:g.81893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1169+242C>T MANE Select	ENSP00000261416.7:n.1169+242C>T
ENST00000261416.11:c.1169+242C>T	ENSP00000261416.7:n.1169+242C>T
ENST00000503312.5:c.45+242C>T
ENST00000504459.5:n.366+242C>T
ENST00000511181.5:c.494+242C>T	ENSP00000426285.1:n.494+242C>T
ENST00000513336.5:c.105+1225C>T
NM_000521.3:c.1169+242C>T	NP_000512.1:n.1169+242C>T
NM_001292004.1:c.494+242C>T	NP_001278933.1:n.494+242C>T
NM_000521.4:c.1169+242C>T MANE Select	NP_000512.2:n.1169+242C>T
NM_001292004.2:c.494+242C>T	NP_001278933.1:n.494+242C>T