Canonical Allele Identifier: CA120900546

Gene: HEXB

Linked Data

• dbSNP Id: rs1051241250
• gnomAD v3: 5-74689209-G-A
• gnomAD v4: 5-74689209-G-A
• MyVariant Identifiers: chr5:g.73985034G>A (hg19) ; chr5:g.74689209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689209G>A , CM000667.2:g.74689209G>A	GRCh38
NC_000005.9:g.73985034G>A , CM000667.1:g.73985034G>A	GRCh37
NC_000005.8:g.74020790G>A	NCBI36
NG_009770.1:g.9066G>A
NG_009770.2:g.54187G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.300-119G>A MANE Select	ENSP00000261416.7:n.300-119G>A
ENST00000261416.11:c.300-119G>A	ENSP00000261416.7:n.300-119G>A
ENST00000511181.5:c.-376-119G>A	ENSP00000426285.1:n.-376-119G>A
ENST00000513079.5:n.365-119G>A
ENST00000515528.1:n.355-119G>A
NM_000521.3:c.300-119G>A	NP_000512.1:n.300-119G>A
NM_001292004.1:c.-376-119G>A	NP_001278933.1:n.-376-119G>A
NM_000521.4:c.300-119G>A MANE Select	NP_000512.2:n.300-119G>A
NM_001292004.2:c.-376-119G>A	NP_001278933.1:n.-376-119G>A