Canonical Allele Identifier: CA444850309
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74685536-C-G
MyVariant Identifiers: chr5:g.73981361C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685536C>G , CM000667.2:g.74685536C>G GRCh38
NC_000005.9:g.73981361C>G , CM000667.1:g.73981361C>G GRCh37
NC_000005.8:g.74017117C>G NCBI36
NG_009770.1:g.5393C>G
NG_009770.2:g.50514C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.276C>G MANE Select ENSP00000261416.7:p.Thr92=
ENST00000261416.11:c.276C>G ENSP00000261416.7:p.Thr92=
ENST00000511181.5:c.-376-3792C>G ENSP00000426285.1:n.-376-3792C>G
ENST00000513079.5:n.341C>G
ENST00000515528.1:n.331C>G
NM_000521.3:c.276C>G NP_000512.1:p.Thr92=
NM_001292004.1:c.-376-3792C>G NP_001278933.1:n.-376-3792C>G
NM_000521.4:c.276C>G MANE Select NP_000512.2:p.Thr92=
NM_001292004.2:c.-376-3792C>G NP_001278933.1:n.-376-3792C>G
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