Canonical Allele Identifier: CA444850027
Gene: HEXB HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.73981250G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685425G>C , CM000667.2:g.74685425G>C GRCh38
NC_000005.9:g.73981250G>C , CM000667.1:g.73981250G>C GRCh37
NC_000005.8:g.74017006G>C NCBI36
NG_009770.1:g.5282G>C
NG_009770.2:g.50403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.165G>C MANE Select ENSP00000261416.7:p.Ala55=
ENST00000261416.11:c.165G>C ENSP00000261416.7:p.Ala55=
ENST00000511181.5:c.-376-3903G>C ENSP00000426285.1:n.-376-3903G>C
ENST00000513079.5:n.230G>C
ENST00000515528.1:n.220G>C
NM_000521.3:c.165G>C NP_000512.1:p.Ala55=
NM_001292004.1:c.-376-3903G>C NP_001278933.1:n.-376-3903G>C
NM_000521.4:c.165G>C MANE Select NP_000512.2:p.Ala55=
NM_001292004.2:c.-376-3903G>C NP_001278933.1:n.-376-3903G>C
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