Canonical Allele Identifier: CA444850058

Gene: HEXB

Linked Data

• gnomAD v4: 5-74685434-C-G
• MyVariant Identifiers: chr5:g.73981259C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685434C>G , CM000667.2:g.74685434C>G	GRCh38
NC_000005.9:g.73981259C>G , CM000667.1:g.73981259C>G	GRCh37
NC_000005.8:g.74017015C>G	NCBI36
NG_009770.1:g.5291C>G
NG_009770.2:g.50412C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.174C>G MANE Select	ENSP00000261416.7:p.Pro58=
ENST00000261416.11:c.174C>G	ENSP00000261416.7:p.Pro58=
ENST00000511181.5:c.-376-3894C>G	ENSP00000426285.1:n.-376-3894C>G
ENST00000513079.5:n.239C>G
ENST00000515528.1:n.229C>G
NM_000521.3:c.174C>G	NP_000512.1:p.Pro58=
NM_001292004.1:c.-376-3894C>G	NP_001278933.1:n.-376-3894C>G
NM_000521.4:c.174C>G MANE Select	NP_000512.2:p.Pro58=
NM_001292004.2:c.-376-3894C>G	NP_001278933.1:n.-376-3894C>G