Canonical Allele Identifier: CA360066974
Gene: HEXB HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.74713512T>C
GRCh37 chr5:g.74009337T>C
Revel Score:
ENST00000511181 0.785
ENST00000261416 (MANE Select) 0.785
gnomAD v3:
5:74713512 T / C
gnomAD v4:
chr5-74713512-T-C
Joint Max Group AF 2.8e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
ClinVar RCV:
RCV000500181
ClinVar Variation:
435414
dbSNP:
1453919511
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74713512T>C , CM000667.2:g.74713512T>C GRCh38
NC_000005.9:g.74009337T>C , CM000667.1:g.74009337T>C GRCh37
NC_000005.8:g.74045093T>C NCBI36
NG_009770.1:g.33369T>C
NG_009770.2:g.78490T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.778T>C MANE Select ENSP00000261416.7:p.Tyr260His
ENST00000261416.11:c.778T>C ENSP00000261416.7:p.Tyr260His
ENST00000511181.5:c.103T>C ENSP00000426285.1:p.Tyr35His
NM_000521.3:c.778T>C NP_000512.1:p.Tyr260His
NM_001292004.1:c.103T>C NP_001278933.1:p.Tyr35His
NM_000521.4:c.778T>C MANE Select NP_000512.2:p.Tyr260His
NM_001292004.2:c.103T>C NP_001278933.1:p.Tyr35His
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