Canonical Allele Identifier: CA1555779426
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689230A= , CM000667.2:g.74689230A= GRCh38
NC_000005.9:g.73985055A= , CM000667.1:g.73985055A= GRCh37
NC_000005.8:g.74020811A= NCBI36
NG_009770.1:g.9087A=
NG_009770.2:g.54208A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-98A= MANE Select ENSP00000261416.7:n.300-98A=
ENST00000261416.11:c.300-98A= ENSP00000261416.7:n.300-98A=
ENST00000511181.5:c.-376-98A= ENSP00000426285.1:n.-376-98A=
ENST00000513079.5:n.365-98A=
ENST00000515528.1:n.355-98A=
NM_000521.3:c.300-98A= NP_000512.1:n.300-98A=
NM_001292004.1:c.-376-98A= NP_001278933.1:n.-376-98A=
NM_000521.4:c.300-98A= MANE Select NP_000512.2:n.300-98A=
NM_001292004.2:c.-376-98A= NP_001278933.1:n.-376-98A=