Canonical Allele Identifier: CA360062459
Gene: HEXB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685522G>T , CM000667.2:g.74685522G>T GRCh38
NC_000005.9:g.73981347G>T , CM000667.1:g.73981347G>T GRCh37
NC_000005.8:g.74017103G>T NCBI36
NG_009770.1:g.5379G>T
NG_009770.2:g.50500G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.262G>T MANE Select ENSP00000261416.7:p.Gly88Cys
ENST00000261416.11:c.262G>T ENSP00000261416.7:p.Gly88Cys
ENST00000511181.5:c.-376-3806G>T ENSP00000426285.1:n.-376-3806G>T
ENST00000513079.5:n.327G>T
ENST00000515528.1:n.317G>T
NM_000521.3:c.262G>T NP_000512.1:p.Gly88Cys
NM_001292004.1:c.-376-3806G>T NP_001278933.1:n.-376-3806G>T
NM_000521.4:c.262G>T MANE Select NP_000512.2:p.Gly88Cys
NM_001292004.2:c.-376-3806G>T NP_001278933.1:n.-376-3806G>T