Canonical Allele Identifier: CA3305918
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 518368
ClinVar RCV Id: RCV000612023 RCV001573050 RCV001797763
dbSNP Id: rs145056714
ExAC: 5:74001089 G / A
gnomAD v2: 5-74001089-G-A
gnomAD v3: 5-74705264-G-A
gnomAD v4: 5-74705264-G-A
MyVariant Identifiers: chr5:g.74001089G>A (hg19) chr5:g.74705264G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74705264G>A , CM000667.2:g.74705264G>A GRCh38
NC_000005.9:g.74001089G>A , CM000667.1:g.74001089G>A GRCh37
NC_000005.8:g.74036845G>A NCBI36
NG_009770.1:g.25121G>A
NG_009770.2:g.70242G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261416.12:c.715G>A MANE Select ENSP00000261416.7:p.Val239Ile
ENST00000261416.11:c.715G>A ENSP00000261416.7:p.Val239Ile
ENST00000511181.5:c.40G>A ENSP00000426285.1:p.Val14Ile
ENST00000513079.5:n.780G>A
NM_000521.3:c.715G>A NP_000512.1:p.Val239Ile
NM_001292004.1:c.40G>A NP_001278933.1:p.Val14Ile
NM_000521.4:c.715G>A MANE Select NP_000512.2:p.Val239Ile
NM_001292004.2:c.40G>A NP_001278933.1:p.Val14Ile
Search 100 bp 5'
Search 100 bp 3'