Canonical Allele Identifier: CA444851305

Gene: HEXB

Linked Data

• ClinVar Variation Id: 1619838
• ClinVar RCV Id: RCV002089151
• dbSNP Id: rs2112129230
• gnomAD v4: 5-74689409-T-C
• MyVariant Identifiers: chr5:g.73985234T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689409T>C , CM000667.2:g.74689409T>C	GRCh38
NC_000005.9:g.73985234T>C , CM000667.1:g.73985234T>C	GRCh37
NC_000005.8:g.74020990T>C	NCBI36
NG_009770.1:g.9266T>C
NG_009770.2:g.54387T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.381T>C MANE Select	ENSP00000261416.7:p.Leu127=
ENST00000261416.11:c.381T>C	ENSP00000261416.7:p.Leu127=
ENST00000511181.5:c.-295T>C	ENSP00000426285.1:n.-295T>C
ENST00000513079.5:n.446T>C
ENST00000515528.1:n.436T>C
NM_000521.3:c.381T>C	NP_000512.1:p.Leu127=
NM_001292004.1:c.-295T>C	NP_001278933.1:n.-295T>C
NM_000521.4:c.381T>C MANE Select	NP_000512.2:p.Leu127=
NM_001292004.2:c.-295T>C	NP_001278933.1:n.-295T>C