Canonical Allele Identifier: CA1555781413
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74718671A= , CM000667.2:g.74718671A= GRCh38
NC_000005.9:g.74014496A= , CM000667.1:g.74014496A= GRCh37
NC_000005.8:g.74050252A= NCBI36
NG_009770.1:g.38528A=
NG_009770.2:g.83649A=

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.1243-126A= MANE Select ENSP00000261416.7:n.1243-126A=
ENST00000261416.11:c.1243-126A= ENSP00000261416.7:n.1243-126A=
ENST00000503312.5:c.119-126A=
ENST00000504459.5:n.440-126A=
ENST00000511181.5:c.568-126A= ENSP00000426285.1:n.568-126A=
ENST00000513336.5:c.179-126A=
ENST00000513539.1:n.74-238A=
NM_000521.3:c.1243-126A= NP_000512.1:n.1243-126A=
NM_001292004.1:c.568-126A= NP_001278933.1:n.568-126A=
NM_000521.4:c.1243-126A= MANE Select NP_000512.2:n.1243-126A=
NM_001292004.2:c.568-126A= NP_001278933.1:n.568-126A=