Canonical Allele Identifier: CA360062559
Gene: HEXB HGNC NCBI

Linked Data

ClinVar Variation Id: 1331374
ClinVar RCV Id: RCV001806718
dbSNP Id: rs1060499701
gnomAD v2: 5-73981384-G-A
gnomAD v4: 5-74685559-G-A
MyVariant Identifiers: chr5:g.73981384G>A (hg19) chr5:g.74685559G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.74685559G>A , CM000667.2:g.74685559G>A GRCh38
NC_000005.9:g.73981384G>A , CM000667.1:g.73981384G>A GRCh37
NC_000005.8:g.74017140G>A NCBI36
NG_009770.1:g.5416G>A
NG_009770.2:g.50537G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261416.12:c.299G>A MANE Select ENSP00000261416.7:p.Arg100Gln
ENST00000261416.11:c.299G>A ENSP00000261416.7:p.Arg100Gln
ENST00000511181.5:c.-376-3769G>A ENSP00000426285.1:n.-376-3769G>A
ENST00000513079.5:n.364G>A
ENST00000515528.1:n.354G>A
NM_000521.3:c.299G>A NP_000512.1:p.Arg100Gln
NM_001292004.1:c.-376-3769G>A NP_001278933.1:n.-376-3769G>A
NM_000521.4:c.299G>A MANE Select NP_000512.2:p.Arg100Gln
NM_001292004.2:c.-376-3769G>A NP_001278933.1:n.-376-3769G>A
Search 100 bp 5'
Search 100 bp 3'