Canonical Allele Identifier: CA444849885
Gene: HEXB HGNC NCBI

Linked Data

gnomAD v4: 5-74685390-C-A
MyVariant Identifiers: chr5:g.73981215C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685390C>A , CM000667.2:g.74685390C>A GRCh38
NC_000005.9:g.73981215C>A , CM000667.1:g.73981215C>A GRCh37
NC_000005.8:g.74016971C>A NCBI36
NG_009770.1:g.5247C>A
NG_009770.2:g.50368C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.130C>A MANE Select ENSP00000261416.7:p.Arg44=
ENST00000261416.11:c.130C>A ENSP00000261416.7:p.Arg44=
ENST00000511181.5:c.-376-3938C>A ENSP00000426285.1:n.-376-3938C>A
ENST00000513079.5:n.195C>A
ENST00000515528.1:n.185C>A
NM_000521.3:c.130C>A NP_000512.1:p.Arg44=
NM_001292004.1:c.-376-3938C>A NP_001278933.1:n.-376-3938C>A
NM_000521.4:c.130C>A MANE Select NP_000512.2:p.Arg44=
NM_001292004.2:c.-376-3938C>A NP_001278933.1:n.-376-3938C>A
Search 100 bp 5'
Search 100 bp 3'