Canonical Allele Identifier: CA360062288
Gene: HEXB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685441C>G , CM000667.2:g.74685441C>G GRCh38
NC_000005.9:g.73981266C>G , CM000667.1:g.73981266C>G GRCh37
NC_000005.8:g.74017022C>G NCBI36
NG_009770.1:g.5298C>G
NG_009770.2:g.50419C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.181C>G MANE Select ENSP00000261416.7:p.Leu61Val
ENST00000261416.11:c.181C>G ENSP00000261416.7:p.Leu61Val
ENST00000511181.5:c.-376-3887C>G ENSP00000426285.1:n.-376-3887C>G
ENST00000513079.5:n.246C>G
ENST00000515528.1:n.236C>G
NM_000521.3:c.181C>G NP_000512.1:p.Leu61Val
NM_001292004.1:c.-376-3887C>G NP_001278933.1:n.-376-3887C>G
NM_000521.4:c.181C>G MANE Select NP_000512.2:p.Leu61Val
NM_001292004.2:c.-376-3887C>G NP_001278933.1:n.-376-3887C>G