Canonical Allele Identifier: CA1555776752
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685620G= , CM000667.2:g.74685620G= GRCh38
NC_000005.9:g.73981445G= , CM000667.1:g.73981445G= GRCh37
NC_000005.8:g.74017201G= NCBI36
NG_009770.1:g.5477G=
NG_009770.2:g.50598G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.299+61G= MANE Select ENSP00000261416.7:n.299+61G=
ENST00000261416.11:c.299+61G= ENSP00000261416.7:n.299+61G=
ENST00000511181.5:c.-376-3708G= ENSP00000426285.1:n.-376-3708G=
ENST00000513079.5:n.364+61G=
ENST00000515528.1:n.354+61G=
NM_000521.3:c.299+61G= NP_000512.1:n.299+61G=
NM_001292004.1:c.-376-3708G= NP_001278933.1:n.-376-3708G=
NM_000521.4:c.299+61G= MANE Select NP_000512.2:n.299+61G=
NM_001292004.2:c.-376-3708G= NP_001278933.1:n.-376-3708G=