Canonical Allele Identifier: CA221070
Gene: HEXB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.74721149G>A
GRCh37 chr5:g.74016974G>A
Revel Score:
ENST00000511181 0.874
ENST00000261416 (MANE Select) 0.874
ENST00000509579 0.874
gnomAD v2:
5:74016974 G / A
gnomAD v4:
chr5-74721149-G-A
Joint Max Group AF 0.0000074 (EAS)
Exomes Max Group AF 0.00000837 (EAS)
ClinVar RCV:
RCV000079062
RCV001854394
ClinVar Variation:
93200
dbSNP:
398123448
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74721149G>A , CM000667.2:g.74721149G>A GRCh38
NC_000005.9:g.74016974G>A , CM000667.1:g.74016974G>A GRCh37
NC_000005.8:g.74052730G>A NCBI36
NG_009770.1:g.41006G>A
NG_011531.1:g.51069C>T
NG_009770.2:g.86127G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.1645G>A MANE Select ENSP00000261416.7:p.Gly549Arg
ENST00000261416.11:c.1645G>A ENSP00000261416.7:p.Gly549Arg
ENST00000503312.5:c.490-169G>A
ENST00000505859.1:c.137-169G>A
ENST00000509579.1:c.82G>A ENSP00000424939.1:p.Gly28Arg
ENST00000511181.5:c.970G>A ENSP00000426285.1:p.Gly324Arg
ENST00000513336.5:c.581G>A
ENST00000513539.1:n.364G>A
ENST00000513867.1:n.93G>A
NM_000521.3:c.1645G>A NP_000512.1:p.Gly549Arg
NM_001292004.1:c.970G>A NP_001278933.1:p.Gly324Arg
NM_000521.4:c.1645G>A MANE Select NP_000512.2:p.Gly549Arg
NM_001292004.2:c.970G>A NP_001278933.1:p.Gly324Arg
Search 100 bp 5'
Search 100 bp 3'