Canonical Allele Identifier: CA3306164

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720519G>A , CM000667.2:g.74720519G>A	GRCh38
NC_000005.9:g.74016344G>A , CM000667.1:g.74016344G>A	GRCh37
NC_000005.8:g.74052100G>A	NCBI36
NG_009770.1:g.40376G>A
NG_011531.1:g.51699C>T
NG_009770.2:g.85497G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1508+1G>A MANE Select	NP_000512.2:n.1508+1G>A
ENST00000261416.12:c.1508+1G>A MANE Select	ENSP00000261416.7:n.1508+1G>A
NM_000521.3:c.1508+1G>A	NP_000512.1:n.1508+1G>A
NM_001292004.1:c.833+1G>A	NP_001278933.1:n.833+1G>A
NM_001292004.2:c.833+1G>A	NP_001278933.1:n.833+1G>A
ENST00000261416.11:c.1508+1G>A	ENSP00000261416.7:n.1508+1G>A
ENST00000503312.5:c.384+1G>A
ENST00000504459.5:n.705+1G>A
ENST00000505859.1:c.31+1G>A
ENST00000509579.1:c.-56+1G>A	ENSP00000424939.1:n.-56+1G>A
ENST00000511181.5:c.833+1G>A	ENSP00000426285.1:n.833+1G>A
ENST00000513336.5:c.444+1G>A
ENST00000513539.1:n.227+1G>A