Canonical Allele Identifier: CA360070786

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720447A>T , CM000667.2:g.74720447A>T	GRCh38
NC_000005.9:g.74016272A>T , CM000667.1:g.74016272A>T	GRCh37
NC_000005.8:g.74052028A>T	NCBI36
NG_009770.1:g.40304A>T
NG_011531.1:g.51771T>A
NG_009770.2:g.85425A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1437A>T MANE Select	NP_000512.2:p.Gln479His
ENST00000261416.12:c.1437A>T MANE Select	ENSP00000261416.7:p.Gln479His
NM_000521.3:c.1437A>T	NP_000512.1:p.Gln479His
NM_001292004.1:c.762A>T	NP_001278933.1:p.Gln254His
NM_001292004.2:c.762A>T	NP_001278933.1:p.Gln254His
ENST00000261416.11:c.1437A>T	ENSP00000261416.7:p.Gln479His
ENST00000503312.5:c.313A>T
ENST00000504459.5:n.634A>T
ENST00000509579.1:c.-127A>T	ENSP00000424939.1:n.-127A>T
ENST00000511181.5:c.762A>T	ENSP00000426285.1:p.Gln254His
ENST00000513336.5:c.373A>T
ENST00000513539.1:n.156A>T