Canonical Allele Identifier: CA3306126

Gene: HEXB

Linked Data

• ClinVar Variation Id: 372685
• ClinVar RCV Id: RCV000414444 ; RCV000984275
• dbSNP Id: rs762892362
• ExAC: 5:74014796 G / A
• gnomAD v2: 5-74014796-G-A
• gnomAD v3: 5-74718971-G-A
• gnomAD v4: 5-74718971-G-A
• MyVariant Identifiers: chr5:g.74014796G>A (hg19) ; chr5:g.74718971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718971G>A , CM000667.2:g.74718971G>A	GRCh38
NC_000005.9:g.74014796G>A , CM000667.1:g.74014796G>A	GRCh37
NC_000005.8:g.74050552G>A	NCBI36
NG_009770.1:g.38828G>A
NG_009770.2:g.83949G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.1417G>A MANE Select	ENSP00000261416.7:p.Gly473Ser
ENST00000261416.11:c.1417G>A	ENSP00000261416.7:p.Gly473Ser
ENST00000503312.5:c.293G>A
ENST00000504459.5:n.614G>A
ENST00000511181.5:c.742G>A	ENSP00000426285.1:p.Gly248Ser
ENST00000513336.5:c.353G>A
ENST00000513539.1:n.136G>A
NM_000521.3:c.1417G>A	NP_000512.1:p.Gly473Ser
NM_001292004.1:c.742G>A	NP_001278933.1:p.Gly248Ser
NM_000521.4:c.1417G>A MANE Select	NP_000512.2:p.Gly473Ser
NM_001292004.2:c.742G>A	NP_001278933.1:p.Gly248Ser