Canonical Allele Identifier: CA491117302
Gene: HEXA HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72638956G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72346615G>T , CM000677.2:g.72346615G>T GRCh38
NC_000015.9:g.72638956G>T , CM000677.1:g.72638956G>T GRCh37
NC_000015.8:g.70426010G>T NCBI36
NG_009017.1:g.34565C>A
NG_009017.2:g.34565C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.1242C>A MANE Select ENSP00000268097.6:p.Ala414=
ENST00000268097.9:c.1242C>A ENSP00000268097.5:p.Ala414=
ENST00000379915.4:c.413-290C>A ENSP00000478716.1:p.=
ENST00000563762.5:n.826-290C>A ENSP00000456346.1:p.=
ENST00000566304.5:c.1275C>A ENSP00000455114.1:p.Ala425=
ENST00000566672.5:c.*652C>A ENSP00000457037.1:p.=
ENST00000567027.5:n.946-290C>A
ENST00000567159.5:c.1242C>A ENSP00000456489.1:p.Ala414=
ENST00000567411.5:c.*763C>A ENSP00000455545.1:p.=
ENST00000568777.5:n.6551-290C>A
ENST00000569410.5:c.*47C>A ENSP00000457125.1:p.=
NM_000520.4:c.1242C>A NP_000511.2:p.Ala414=
NM_000520.5:c.1242C>A NP_000511.2:p.Ala414=
NM_001318825.1:c.1275C>A NP_001305754.1:p.Ala425=
NR_134869.1:n.1575-290C>A
NM_000520.6:c.1242C>A MANE Select NP_000511.2:p.Ala414=
NM_001318825.2:c.1275C>A NP_001305754.1:p.Ala425=
NR_134869.2:n.1116-290C>A
NR_134869.3:n.1116-290C>A