Canonical Allele Identifier: CA3306210
Gene: HEXB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.74720731C>T
GRCh37 chr5:g.74016556C>T
Revel Score:
ENST00000513336 0.656
ENST00000511181 0.941
ENST00000261416 (MANE Select) 0.941
ENST00000509579 0.941
gnomAD v2:
5:74016556 C / T
gnomAD v4:
chr5-74720731-C-T
Joint Max Group AF 0.00001725 (NFE)
Exomes Max Group AF 0.00001831 (NFE)
ClinVar RCV:
RCV000502357
ClinVar Variation:
435415
dbSNP:
764552042
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74720731C>T , CM000667.2:g.74720731C>T GRCh38
NC_000005.9:g.74016556C>T , CM000667.1:g.74016556C>T GRCh37
NC_000005.8:g.74052312C>T NCBI36
NG_009770.1:g.40588C>T
NG_011531.1:g.51487G>A
NG_009770.2:g.85709C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.1597C>T MANE Select ENSP00000261416.7:p.Arg533Cys
ENST00000261416.11:c.1597C>T ENSP00000261416.7:p.Arg533Cys
ENST00000503312.5:c.473C>T
ENST00000504459.5:n.794C>T
ENST00000505859.1:c.120C>T
ENST00000509579.1:c.34C>T ENSP00000424939.1:p.Arg12Cys
ENST00000511181.5:c.922C>T ENSP00000426285.1:p.Arg308Cys
ENST00000513336.5:c.533C>T
ENST00000513539.1:n.316C>T
NM_000521.3:c.1597C>T NP_000512.1:p.Arg533Cys
NM_001292004.1:c.922C>T NP_001278933.1:p.Arg308Cys
NM_000521.4:c.1597C>T MANE Select NP_000512.2:p.Arg533Cys
NM_001292004.2:c.922C>T NP_001278933.1:p.Arg308Cys
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