Canonical Allele Identifier: CA2674240486

Gene: HEXB

Linked Data

• gnomAD v4: 5-74718653-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74718653C>A , CM000667.2:g.74718653C>A	GRCh38
NC_000005.9:g.74014478C>A , CM000667.1:g.74014478C>A	GRCh37
NC_000005.8:g.74050234C>A	NCBI36
NG_009770.1:g.38510C>A
NG_009770.2:g.83631C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.1243-144C>A MANE Select	ENSP00000261416.7:n.1243-144C>A
ENST00000261416.11:c.1243-144C>A	ENSP00000261416.7:n.1243-144C>A
ENST00000503312.5:c.119-144C>A
ENST00000504459.5:n.440-144C>A
ENST00000511181.5:c.568-144C>A	ENSP00000426285.1:n.568-144C>A
ENST00000513336.5:c.179-144C>A
ENST00000513539.1:n.74-256C>A
NM_000521.3:c.1243-144C>A	NP_000512.1:n.1243-144C>A
NM_001292004.1:c.568-144C>A	NP_001278933.1:n.568-144C>A
NM_000521.4:c.1243-144C>A MANE Select	NP_000512.2:n.1243-144C>A
NM_001292004.2:c.568-144C>A	NP_001278933.1:n.568-144C>A