Canonical Allele Identifier: CA3306091

Gene: HEXB

Linked Data

• ClinVar Variation Id: 1121696
• ClinVar RCV Id: RCV001452055
• dbSNP Id: rs144264311
• ExAC: 5:74014630 G / A
• gnomAD v2: 5-74014630-G-A
• gnomAD v3: 5-74718805-G-A
• gnomAD v4: 5-74718805-G-A
• COSMIC: COSM5648536
• MyVariant Identifiers: chr5:g.74014630G>A (hg19) ; chr5:g.74718805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718805G>A , CM000667.2:g.74718805G>A	GRCh38
NC_000005.9:g.74014630G>A , CM000667.1:g.74014630G>A	GRCh37
NC_000005.8:g.74050386G>A	NCBI36
NG_009770.1:g.38662G>A
NG_009770.2:g.83783G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1251G>A MANE Select	ENSP00000261416.7:p.Pro417=
ENST00000261416.11:c.1251G>A	ENSP00000261416.7:p.Pro417=
ENST00000503312.5:c.127G>A
ENST00000504459.5:n.448G>A
ENST00000511181.5:c.576G>A	ENSP00000426285.1:p.Pro192=
ENST00000513336.5:c.187G>A
ENST00000513539.1:n.74-104G>A
NM_000521.3:c.1251G>A	NP_000512.1:p.Pro417=
NM_001292004.1:c.576G>A	NP_001278933.1:p.Pro192=
NM_000521.4:c.1251G>A MANE Select	NP_000512.2:p.Pro417=
NM_001292004.2:c.576G>A	NP_001278933.1:p.Pro192=