Canonical Allele Identifier: CA3306090
Gene: HEXB HGNC NCBI
COSMIC:
COSM5061195 (not active)
MyVariant.info:
GRCh38 chr5:g.74718802G>A
GRCh37 chr5:g.74014627G>A
Revel Score:
ENST00000513336 0.099
gnomAD v2:
5:74014627 G / A
gnomAD v3:
5:74718802 G / A
gnomAD v4:
chr5-74718802-G-A
Joint Max Group AF 0.00079539 (NFE)
Genomes Max Group AF 0.00044366 (NFE)
Exomes Max Group AF 0.00080899 (NFE)
ClinVar RCV:
RCV000363000
ClinVar Variation:
354136
dbSNP:
137915238
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74718802G>A , CM000667.2:g.74718802G>A GRCh38
NC_000005.9:g.74014627G>A , CM000667.1:g.74014627G>A GRCh37
NC_000005.8:g.74050383G>A NCBI36
NG_009770.1:g.38659G>A
NG_009770.2:g.83780G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.1248G>A MANE Select ENSP00000261416.7:p.Ala416=
ENST00000261416.11:c.1248G>A ENSP00000261416.7:p.Ala416=
ENST00000503312.5:c.124G>A
ENST00000504459.5:n.445G>A
ENST00000511181.5:c.573G>A ENSP00000426285.1:p.Ala191=
ENST00000513336.5:c.184G>A
ENST00000513539.1:n.74-107G>A
NM_000521.3:c.1248G>A NP_000512.1:p.Ala416=
NM_001292004.1:c.573G>A NP_001278933.1:p.Ala191=
NM_000521.4:c.1248G>A MANE Select NP_000512.2:p.Ala416=
NM_001292004.2:c.573G>A NP_001278933.1:p.Ala191=
Search 100 bp 5'
Search 100 bp 3'