Canonical Allele Identifier: CA360062856

Gene: HEXB

Linked Data

• dbSNP Id: rs774629971
• gnomAD v2: 5-73985158-A-G
• gnomAD v3: 5-74689333-A-G
• gnomAD v4: 5-74689333-A-G
• MyVariant Identifiers: chr5:g.73985158A>G (hg19) ; chr5:g.74689333A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74689333A>G , CM000667.2:g.74689333A>G	GRCh38
NC_000005.9:g.73985158A>G , CM000667.1:g.73985158A>G	GRCh37
NC_000005.8:g.74020914A>G	NCBI36
NG_009770.1:g.9190A>G
NG_009770.2:g.54311A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261416.12:c.305A>G MANE Select	ENSP00000261416.7:p.His102Arg
ENST00000261416.11:c.305A>G	ENSP00000261416.7:p.His102Arg
ENST00000511181.5:c.-371A>G	ENSP00000426285.1:n.-371A>G
ENST00000513079.5:n.370A>G
ENST00000515528.1:n.360A>G
NM_000521.3:c.305A>G	NP_000512.1:p.His102Arg
NM_001292004.1:c.-371A>G	NP_001278933.1:n.-371A>G
NM_000521.4:c.305A>G MANE Select	NP_000512.2:p.His102Arg
NM_001292004.2:c.-371A>G	NP_001278933.1:n.-371A>G