Canonical Allele Identifier: CA1555779451
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74689282T= , CM000667.2:g.74689282T= GRCh38
NC_000005.9:g.73985107T= , CM000667.1:g.73985107T= GRCh37
NC_000005.8:g.74020863T= NCBI36
NG_009770.1:g.9139T=
NG_009770.2:g.54260T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.300-46T= MANE Select ENSP00000261416.7:n.300-46T=
ENST00000261416.11:c.300-46T= ENSP00000261416.7:n.300-46T=
ENST00000511181.5:c.-376-46T= ENSP00000426285.1:n.-376-46T=
ENST00000513079.5:n.365-46T=
ENST00000515528.1:n.355-46T=
NM_000521.3:c.300-46T= NP_000512.1:n.300-46T=
NM_001292004.1:c.-376-46T= NP_001278933.1:n.-376-46T=
NM_000521.4:c.300-46T= MANE Select NP_000512.2:n.300-46T=
NM_001292004.2:c.-376-46T= NP_001278933.1:n.-376-46T=