Canonical Allele Identifier: CA180111
Gene: HEXB HGNC NCBI
COSMIC:
COSM450042 (not active)
MyVariant.info:
GRCh38 chr5:g.74685445T>C
GRCh37 chr5:g.73981270T>C
Revel Score:
ENST00000261416 (MANE Select) 0.110
gnomAD v2:
5:73981270 T / C
gnomAD v3:
5:74685445 T / C
gnomAD v4:
chr5-74685445-T-C
Joint Max Group AF 0.99202782 (EAS)
Genomes Max Group AF 0.98449765 (AFR)
Exomes Max Group AF 0.99159935 (EAS)
ClinVar RCV:
RCV000153357
RCV000987526
ClinVar Variation:
167173
dbSNP:
820878
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685445T>C , CM000667.2:g.74685445T>C GRCh38
NC_000005.9:g.73981270T>C , CM000667.1:g.73981270T>C GRCh37
NC_000005.8:g.74017026T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.185T>C MANE Select ENSP00000261416.7:p.Leu62Ser
ENST00000261416.11:c.185T>C ENSP00000261416.7:p.Leu62Ser
ENST00000511181.5:c.-376-3883T>C ENSP00000426285.1:n.-376-3883T>C
ENST00000513079.5:n.250T>C
ENST00000515528.1:n.240T>C
NM_001292004.1:c.-376-3883T>C NP_001278933.1:n.-376-3883T>C
NM_000521.4:c.185T>C MANE Select NP_000512.2:p.Leu62Ser
NM_001292004.2:c.-376-3883T>C NP_001278933.1:n.-376-3883T>C
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