Canonical Allele Identifier: CA1555781401
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74718667G= , CM000667.2:g.74718667G= GRCh38
NC_000005.9:g.74014492G= , CM000667.1:g.74014492G= GRCh37
NC_000005.8:g.74050248G= NCBI36
NG_009770.1:g.38524G=
NG_009770.2:g.83645G=

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.1243-130G= MANE Select ENSP00000261416.7:n.1243-130G=
ENST00000261416.11:c.1243-130G= ENSP00000261416.7:n.1243-130G=
ENST00000503312.5:c.119-130G=
ENST00000504459.5:n.440-130G=
ENST00000511181.5:c.568-130G= ENSP00000426285.1:n.568-130G=
ENST00000513336.5:c.179-130G=
ENST00000513539.1:n.74-242G=
NM_000521.3:c.1243-130G= NP_000512.1:n.1243-130G=
NM_001292004.1:c.568-130G= NP_001278933.1:n.568-130G=
NM_000521.4:c.1243-130G= MANE Select NP_000512.2:n.1243-130G=
NM_001292004.2:c.568-130G= NP_001278933.1:n.568-130G=