Canonical Allele Identifier: CA360070176

Gene: HEXB

Linked Data

• ClinVar Variation Id: 1984519
• ClinVar RCV Id: RCV002756836
• gnomAD v4: 5-74718807-G-A
• MyVariant Identifiers: chr5:g.74014632G>A (hg19) ; chr5:g.74718807G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718807G>A , CM000667.2:g.74718807G>A	GRCh38
NC_000005.9:g.74014632G>A , CM000667.1:g.74014632G>A	GRCh37
NC_000005.8:g.74050388G>A	NCBI36
NG_009770.1:g.38664G>A
NG_009770.2:g.83785G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1253G>A MANE Select	ENSP00000261416.7:p.Gly418Asp
ENST00000261416.11:c.1253G>A	ENSP00000261416.7:p.Gly418Asp
ENST00000503312.5:c.129G>A
ENST00000504459.5:n.450G>A
ENST00000511181.5:c.578G>A	ENSP00000426285.1:p.Gly193Asp
ENST00000513336.5:c.189G>A
ENST00000513539.1:n.74-102G>A
NM_000521.3:c.1253G>A	NP_000512.1:p.Gly418Asp
NM_001292004.1:c.578G>A	NP_001278933.1:p.Gly193Asp
NM_000521.4:c.1253G>A MANE Select	NP_000512.2:p.Gly418Asp
NM_001292004.2:c.578G>A	NP_001278933.1:p.Gly193Asp