Canonical Allele Identifier: CA116495

Gene: HEXB

Linked Data

• ClinVar Variation Id: 3887
• ClinVar RCV Id: RCV000004091 ; RCV000184012 ; RCV000579011
• dbSNP Id: rs121907986
• ExAC: 5:74009409 C / T
• gnomAD v2: 5-74009409-C-T
• gnomAD v3: 5-74713584-C-T
• gnomAD v4: 5-74713584-C-T
• COSMIC: COSM1070016
• MyVariant Identifiers: chr5:g.74009409C>T (hg19) ; chr5:g.74713584C>T (hg38)
• PubMed: PMID:18758829

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74713584C>T , CM000667.2:g.74713584C>T	GRCh38
NC_000005.9:g.74009409C>T , CM000667.1:g.74009409C>T	GRCh37
NC_000005.8:g.74045165C>T	NCBI36
NG_009770.1:g.33441C>T
NG_009770.2:g.78562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.850C>T MANE Select	ENSP00000261416.7:p.Arg284Ter
ENST00000261416.11:c.850C>T	ENSP00000261416.7:p.Arg284Ter
ENST00000504459.5:n.47C>T
ENST00000511181.5:c.175C>T	ENSP00000426285.1:p.Arg59Ter
NM_000521.3:c.850C>T	NP_000512.1:p.Arg284Ter
NM_001292004.1:c.175C>T	NP_001278933.1:p.Arg59Ter
NM_000521.4:c.850C>T MANE Select	NP_000512.2:p.Arg284Ter
NM_001292004.2:c.175C>T	NP_001278933.1:p.Arg59Ter