Canonical Allele Identifier: CA360070980

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720491A>G , CM000667.2:g.74720491A>G	GRCh38
NC_000005.9:g.74016316A>G , CM000667.1:g.74016316A>G	GRCh37
NC_000005.8:g.74052072A>G	NCBI36
NG_009770.1:g.40348A>G
NG_011531.1:g.51727T>C
NG_009770.2:g.85469A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1481A>G MANE Select	NP_000512.2:p.Asp494Gly
ENST00000261416.12:c.1481A>G MANE Select	ENSP00000261416.7:p.Asp494Gly
NM_000521.3:c.1481A>G	NP_000512.1:p.Asp494Gly
NM_001292004.1:c.806A>G	NP_001278933.1:p.Asp269Gly
NM_001292004.2:c.806A>G	NP_001278933.1:p.Asp269Gly
ENST00000261416.11:c.1481A>G	ENSP00000261416.7:p.Asp494Gly
ENST00000503312.5:c.357A>G
ENST00000504459.5:n.678A>G
ENST00000505859.1:c.4A>G
ENST00000509579.1:c.-83A>G	ENSP00000424939.1:n.-83A>G
ENST00000511181.5:c.806A>G	ENSP00000426285.1:p.Asp269Gly
ENST00000513336.5:c.417A>G
ENST00000513539.1:n.200A>G