Canonical Allele Identifier: CA360070188

Gene: HEXB

Linked Data

• gnomAD v4: 5-74718813-T-G
• MyVariant Identifiers: chr5:g.74014638T>G (hg19) ; chr5:g.74718813T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718813T>G , CM000667.2:g.74718813T>G	GRCh38
NC_000005.9:g.74014638T>G , CM000667.1:g.74014638T>G	GRCh37
NC_000005.8:g.74050394T>G	NCBI36
NG_009770.1:g.38670T>G
NG_009770.2:g.83791T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1259T>G MANE Select	ENSP00000261416.7:p.Ile420Arg
ENST00000261416.11:c.1259T>G	ENSP00000261416.7:p.Ile420Arg
ENST00000503312.5:c.135T>G
ENST00000504459.5:n.456T>G
ENST00000511181.5:c.584T>G	ENSP00000426285.1:p.Ile195Arg
ENST00000513336.5:c.195T>G
ENST00000513539.1:n.74-96T>G
NM_000521.3:c.1259T>G	NP_000512.1:p.Ile420Arg
NM_001292004.1:c.584T>G	NP_001278933.1:p.Ile195Arg
NM_000521.4:c.1259T>G MANE Select	NP_000512.2:p.Ile420Arg
NM_001292004.2:c.584T>G	NP_001278933.1:p.Ile195Arg