Canonical Allele Identifier: CA116504
Gene: HEXA HGNC NCBI

Linked Data

ClinVar Variation Id: 3915
ClinVar RCV Id: RCV000004121 RCV000169417
dbSNP Id: rs121907966
gnomAD: 15:72637818 G / A
MyVariant Identifiers: chr15:g.72637818G>A (hg19) chr15:g.72345477G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72345477G>A , CM000677.2:g.72345477G>A GRCh38
NC_000015.9:g.72637818G>A , CM000677.1:g.72637818G>A GRCh37
NC_000015.8:g.70424872G>A NCBI36
NG_009017.1:g.35703C>T
NG_009017.2:g.35703C>T

Transcript Alleles

HGVS Amino-acid change
NM_000520.4:c.1495C>T NP_000511.2:p.Arg499Cys
NM_000520.5:c.1495C>T NP_000511.2:p.Arg499Cys
NM_001318825.1:c.1528C>T NP_001305754.1:p.Arg510Cys
NR_134869.1:n.1739C>T
NM_000520.6:c.1495C>T MANE Select NP_000511.2:p.Arg499Cys
NM_001318825.2:c.1528C>T NP_001305754.1:p.Arg510Cys
NR_134869.2:n.1280C>T
NR_134869.3:n.1280C>T
ENST00000268097.9:c.1495C>T ENSP00000268097.5:p.Arg499Cys
ENST00000379915.4:c.577C>T ENSP00000478716.1:p.Arg193Cys
ENST00000564677.5:n.287C>T
ENST00000565873.1:n.406C>T
ENST00000566304.5:c.1528C>T ENSP00000455114.1:p.Arg510Cys
ENST00000567027.5:n.1110C>T
ENST00000567159.5:c.1495C>T ENSP00000456489.1:p.Arg499Cys
ENST00000567411.5:c.*1016C>T ENSP00000455545.1:p.=
ENST00000568777.5:n.6715C>T
ENST00000569116.1:n.202C>T
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