Canonical Allele Identifier: CA444851313

Gene: HEXB

Linked Data

• ClinVar Variation Id: 1659026
• ClinVar RCV Id: RCV002176102
• dbSNP Id: rs1748945386
• gnomAD v4: 5-74689418-A-C
• MyVariant Identifiers: chr5:g.73985243A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689418A>C , CM000667.2:g.74689418A>C	GRCh38
NC_000005.9:g.73985243A>C , CM000667.1:g.73985243A>C	GRCh37
NC_000005.8:g.74020999A>C	NCBI36
NG_009770.1:g.9275A>C
NG_009770.2:g.54396A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.390A>C MANE Select	ENSP00000261416.7:p.Ser130=
ENST00000261416.11:c.390A>C	ENSP00000261416.7:p.Ser130=
ENST00000511181.5:c.-286A>C	ENSP00000426285.1:n.-286A>C
ENST00000513079.5:n.455A>C
ENST00000515528.1:n.445A>C
NM_000521.3:c.390A>C	NP_000512.1:p.Ser130=
NM_001292004.1:c.-286A>C	NP_001278933.1:n.-286A>C
NM_000521.4:c.390A>C MANE Select	NP_000512.2:p.Ser130=
NM_001292004.2:c.-286A>C	NP_001278933.1:n.-286A>C