Canonical Allele Identifier: CA360062221
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73981228T>G (hg19) chr5:g.74685403T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685403T>G , CM000667.2:g.74685403T>G GRCh38
NC_000005.9:g.73981228T>G , CM000667.1:g.73981228T>G GRCh37
NC_000005.8:g.74016984T>G NCBI36
NG_009770.1:g.5260T>G
NG_009770.2:g.50381T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.143T>G MANE Select ENSP00000261416.7:p.Val48Gly
ENST00000261416.11:c.143T>G ENSP00000261416.7:p.Val48Gly
ENST00000511181.5:c.-376-3925T>G ENSP00000426285.1:n.-376-3925T>G
ENST00000513079.5:n.208T>G
ENST00000515528.1:n.198T>G
NM_000521.3:c.143T>G NP_000512.1:p.Val48Gly
NM_001292004.1:c.-376-3925T>G NP_001278933.1:n.-376-3925T>G
NM_000521.4:c.143T>G MANE Select NP_000512.2:p.Val48Gly
NM_001292004.2:c.-376-3925T>G NP_001278933.1:n.-376-3925T>G
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