Canonical Allele Identifier: CA1555775982
Gene: HEXB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685292C= , CM000667.2:g.74685292C= GRCh38
NC_000005.9:g.73981117C= , CM000667.1:g.73981117C= GRCh37
NC_000005.8:g.74016873C= NCBI36
NG_009770.1:g.5149C=
NG_009770.2:g.50270C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.32C= MANE Select ENSP00000261416.7:p.Pro11=
ENST00000261416.11:c.32C= ENSP00000261416.7:p.Pro11=
ENST00000511181.5:c.-376-4036C= ENSP00000426285.1:n.-376-4036C=
ENST00000513079.5:n.97C=
ENST00000515528.1:n.87C=
NM_000521.3:c.32C= NP_000512.1:p.Pro11=
NM_001292004.1:c.-376-4036C= NP_001278933.1:n.-376-4036C=
NM_000521.4:c.32C= MANE Select NP_000512.2:p.Pro11=
NM_001292004.2:c.-376-4036C= NP_001278933.1:n.-376-4036C=