Canonical Allele Identifier: CA1555779396

Gene: HEXB

Linked Data

• dbSNP Id: rs1748940008
• gnomAD v4: 5-74689200-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689200G>T , CM000667.2:g.74689200G>T	GRCh38
NC_000005.9:g.73985025G>T , CM000667.1:g.73985025G>T	GRCh37
NC_000005.8:g.74020781G>T	NCBI36
NG_009770.1:g.9057G>T
NG_009770.2:g.54178G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.300-128G>T MANE Select	ENSP00000261416.7:n.300-128G>T
ENST00000261416.11:c.300-128G>T	ENSP00000261416.7:n.300-128G>T
ENST00000511181.5:c.-376-128G>T	ENSP00000426285.1:n.-376-128G>T
ENST00000513079.5:n.365-128G>T
ENST00000515528.1:n.355-128G>T
NM_000521.3:c.300-128G>T	NP_000512.1:n.300-128G>T
NM_001292004.1:c.-376-128G>T	NP_001278933.1:n.-376-128G>T
NM_000521.4:c.300-128G>T MANE Select	NP_000512.2:n.300-128G>T
NM_001292004.2:c.-376-128G>T	NP_001278933.1:n.-376-128G>T