Canonical Allele Identifier: CA444849279

Gene: HEXB

Linked Data

• ClinVar Variation Id: 1937452
• ClinVar RCV Id: RCV002653277
• gnomAD v4: 5-74685323-A-G
• MyVariant Identifiers: chr5:g.73981148A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685323A>G , CM000667.2:g.74685323A>G	GRCh38
NC_000005.9:g.73981148A>G , CM000667.1:g.73981148A>G	GRCh37
NC_000005.8:g.74016904A>G	NCBI36
NG_009770.1:g.5180A>G
NG_009770.2:g.50301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.63A>G MANE Select	ENSP00000261416.7:p.Thr21=
ENST00000261416.11:c.63A>G	ENSP00000261416.7:p.Thr21=
ENST00000511181.5:c.-376-4005A>G	ENSP00000426285.1:n.-376-4005A>G
ENST00000513079.5:n.128A>G
ENST00000515528.1:n.118A>G
NM_000521.3:c.63A>G	NP_000512.1:p.Thr21=
NM_001292004.1:c.-376-4005A>G	NP_001278933.1:n.-376-4005A>G
NM_000521.4:c.63A>G MANE Select	NP_000512.2:p.Thr21=
NM_001292004.2:c.-376-4005A>G	NP_001278933.1:n.-376-4005A>G