Canonical Allele Identifier: CA360071579

Gene: HEXB

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74720732G>A , CM000667.2:g.74720732G>A	GRCh38
NC_000005.9:g.74016557G>A , CM000667.1:g.74016557G>A	GRCh37
NC_000005.8:g.74052313G>A	NCBI36
NG_009770.1:g.40589G>A
NG_011531.1:g.51486C>T
NG_009770.2:g.85710G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000521.4:c.1598G>A MANE Select	NP_000512.2:p.Arg533His
ENST00000261416.12:c.1598G>A MANE Select	ENSP00000261416.7:p.Arg533His
NM_000521.3:c.1598G>A	NP_000512.1:p.Arg533His
NM_001292004.1:c.923G>A	NP_001278933.1:p.Arg308His
NM_001292004.2:c.923G>A	NP_001278933.1:p.Arg308His
ENST00000261416.11:c.1598G>A	ENSP00000261416.7:p.Arg533His
ENST00000503312.5:c.474G>A
ENST00000504459.5:n.795G>A
ENST00000505859.1:c.121G>A
ENST00000509579.1:c.35G>A	ENSP00000424939.1:p.Arg12His
ENST00000511181.5:c.923G>A	ENSP00000426285.1:p.Arg308His
ENST00000513336.5:c.534G>A
ENST00000513539.1:n.317G>A