Canonical Allele Identifier: CA200905
Gene: HEXB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.74720488T>G
GRCh37 chr5:g.74016313T>G
Revel Score:
ENST00000513336 0.746
ENST00000511181 0.951
ENST00000261416 (MANE Select) 0.951
gnomAD v2:
5:74016313 T / G
gnomAD v3:
5:74720488 T / G
gnomAD v4:
chr5-74720488-T-G
Joint Max Group AF 0.00000183 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
ClinVar RCV:
RCV000174253
RCV001323093
ClinVar Variation:
193999
dbSNP:
794727049
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74720488T>G , CM000667.2:g.74720488T>G GRCh38
NC_000005.9:g.74016313T>G , CM000667.1:g.74016313T>G GRCh37
NC_000005.8:g.74052069T>G NCBI36
NG_009770.1:g.40345T>G
NG_011531.1:g.51730A>C
NG_009770.2:g.85466T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.1478T>G MANE Select ENSP00000261416.7:p.Val493Gly
ENST00000261416.11:c.1478T>G ENSP00000261416.7:p.Val493Gly
ENST00000503312.5:c.354T>G
ENST00000504459.5:n.675T>G
ENST00000505859.1:c.1T>G
ENST00000509579.1:c.-86T>G ENSP00000424939.1:n.-86T>G
ENST00000511181.5:c.803T>G ENSP00000426285.1:p.Val268Gly
ENST00000513336.5:c.414T>G
ENST00000513539.1:n.197T>G
NM_000521.3:c.1478T>G NP_000512.1:p.Val493Gly
NM_001292004.1:c.803T>G NP_001278933.1:p.Val268Gly
NM_000521.4:c.1478T>G MANE Select NP_000512.2:p.Val493Gly
NM_001292004.2:c.803T>G NP_001278933.1:p.Val268Gly
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