Canonical Allele Identifier: CA10622141

Gene: HEXB

Linked Data

• ClinVar Variation Id: 354135
• ClinVar RCV Id: RCV000308357
• dbSNP Id: rs5030731
• gnomAD v2: 5-74011520-G-A
• gnomAD v3: 5-74715695-G-A
• gnomAD v4: 5-74715695-G-A
• MyVariant Identifiers: chr5:g.74011520G>A (hg19) ; chr5:g.74715695G>A (hg38)
• PubMed: PMID:9888387 ; PMID:22848519 ; PMID:24356898

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74715695G>A , CM000667.2:g.74715695G>A	GRCh38
NC_000005.9:g.74011520G>A , CM000667.1:g.74011520G>A	GRCh37
NC_000005.8:g.74047276G>A	NCBI36
NG_009770.1:g.35552G>A
NG_009770.2:g.80673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1082+5G>A MANE Select	ENSP00000261416.7:n.1082+5G>A
ENST00000261416.11:c.1082+5G>A	ENSP00000261416.7:n.1082+5G>A
ENST00000504459.5:n.279+5G>A
ENST00000511181.5:c.407+5G>A	ENSP00000426285.1:n.407+5G>A
ENST00000511621.1:n.45+5G>A
ENST00000513336.5:c.105+5G>A
NM_000521.3:c.1082+5G>A	NP_000512.1:n.1082+5G>A
NM_001292004.1:c.407+5G>A	NP_001278933.1:n.407+5G>A
NM_000521.4:c.1082+5G>A MANE Select	NP_000512.2:n.1082+5G>A
NM_001292004.2:c.407+5G>A	NP_001278933.1:n.407+5G>A