Canonical Allele Identifier: CA1555779298
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689118T= , CM000667.2:g.74689118T= GRCh38
NC_000005.9:g.73984943T= , CM000667.1:g.73984943T= GRCh37
NC_000005.8:g.74020699T= NCBI36
NG_009770.1:g.8975T=
NG_009770.2:g.54096T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-210T= MANE Select ENSP00000261416.7:n.300-210T=
ENST00000261416.11:c.300-210T= ENSP00000261416.7:n.300-210T=
ENST00000511181.5:c.-376-210T= ENSP00000426285.1:n.-376-210T=
ENST00000513079.5:n.365-210T=
ENST00000515528.1:n.355-210T=
NM_000521.3:c.300-210T= NP_000512.1:n.300-210T=
NM_001292004.1:c.-376-210T= NP_001278933.1:n.-376-210T=
NM_000521.4:c.300-210T= MANE Select NP_000512.2:n.300-210T=
NM_001292004.2:c.-376-210T= NP_001278933.1:n.-376-210T=