Canonical Allele Identifier: CA116485
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 3878
ClinVar RCV Id: RCV000004082 RCV000004084 RCV000079058 RCV000174009 RCV002251870 RCV003407272
dbSNP Id: rs28942073
ExAC: 5:74014629 C / T
gnomAD v2: 5-74014629-C-T
gnomAD v3: 5-74718804-C-T
gnomAD v4: 5-74718804-C-T
MyVariant Identifiers: chr5:g.74014629C>T (hg19) chr5:g.74718804C>T (hg38)
PubMed: PMID:1386607 PMID:1531140 PMID:2147027 PMID:7557963 PMID:17237499 PMID:21150067 PMID:22789865 PMID:23127958 PMID:23891399 PMID:24263030 PMID:24461908 PMID:25736553 PMID:26206375
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74718804C>T , CM000667.2:g.74718804C>T GRCh38
NC_000005.9:g.74014629C>T , CM000667.1:g.74014629C>T GRCh37
NC_000005.8:g.74050385C>T NCBI36
NG_009770.1:g.38661C>T
NG_009770.2:g.83782C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.1250C>T MANE Select ENSP00000261416.7:p.Pro417Leu
ENST00000261416.11:c.1250C>T ENSP00000261416.7:p.Pro417Leu
ENST00000503312.5:c.126C>T
ENST00000504459.5:n.447C>T
ENST00000511181.5:c.575C>T ENSP00000426285.1:p.Pro192Leu
ENST00000513336.5:c.186C>T
ENST00000513539.1:n.74-105C>T
NM_000521.3:c.1250C>T NP_000512.1:p.Pro417Leu
NM_001292004.1:c.575C>T NP_001278933.1:p.Pro192Leu
NM_000521.4:c.1250C>T MANE Select NP_000512.2:p.Pro417Leu
NM_001292004.2:c.575C>T NP_001278933.1:p.Pro192Leu
Search 100 bp 5'
Search 100 bp 3'