Canonical Allele Identifier: CA444848880

Gene: HEXB

Linked Data

• ClinVar Variation Id: 1626668
• ClinVar RCV Id: RCV002120531
• dbSNP Id: rs144264311
• gnomAD v3: 5-74718805-G-T
• gnomAD v4: 5-74718805-G-T
• MyVariant Identifiers: chr5:g.74014630G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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