Canonical Allele Identifier: CA1077547847

Gene: HEXB

Linked Data

• dbSNP Id: rs1748851980
• gnomAD v3: 5-74685680-A-G
• gnomAD v4: 5-74685680-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685680A>G , CM000667.2:g.74685680A>G	GRCh38
NC_000005.9:g.73981505A>G , CM000667.1:g.73981505A>G	GRCh37
NC_000005.8:g.74017261A>G	NCBI36
NG_009770.1:g.5537A>G
NG_009770.2:g.50658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.299+121A>G MANE Select	ENSP00000261416.7:n.299+121A>G
ENST00000261416.11:c.299+121A>G	ENSP00000261416.7:n.299+121A>G
ENST00000511181.5:c.-376-3648A>G	ENSP00000426285.1:n.-376-3648A>G
ENST00000513079.5:n.364+121A>G
ENST00000515528.1:n.354+121A>G
NM_000521.3:c.299+121A>G	NP_000512.1:n.299+121A>G
NM_001292004.1:c.-376-3648A>G	NP_001278933.1:n.-376-3648A>G
NM_000521.4:c.299+121A>G MANE Select	NP_000512.2:n.299+121A>G
NM_001292004.2:c.-376-3648A>G	NP_001278933.1:n.-376-3648A>G