Canonical Allele Identifier: CA256115
Gene: IDUA HGNC NCBI

Linked Data

ClinVar Variation Id: 11915
ClinVar RCV Id: RCV000012690
dbSNP Id: rs121965023
gnomAD v4: 4-1002117-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002117C>T , CM000666.2:g.1002117C>T GRCh38
NC_000004.11:g.995905C>T , CM000666.1:g.995905C>T GRCh37
NC_000004.10:g.985905C>T NCBI36
NG_008103.1:g.20121C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000247933.9:c.928C>T ENSP00000247933.4:p.Gln310Ter
ENST00000514224.2:c.928C>T MANE Select ENSP00000425081.2:p.Gln310Ter
ENST00000652070.1:n.984C>T
ENST00000247933.8:c.928C>T ENSP00000247933.4:p.Gln310Ter
ENST00000514224.1:c.532C>T ENSP00000425081.1:p.Gln178Ter
ENST00000514698.5:n.928C>T
NM_000203.4:c.928C>T NP_000194.2:p.Gln310Ter
NR_110313.1:n.1016C>T
XM_006713882.2:c.532C>T XP_006713945.1:p.Gln178Ter
XM_011513459.1:c.887C>T XP_011511761.1:p.Thr296Ile
XM_011513460.1:c.787C>T XP_011511762.1:p.Gln263Ter
XM_011513461.1:c.721C>T XP_011511763.1:p.Gln241Ter
XM_011513462.1:c.640C>T XP_011511764.1:p.Gln214Ter
XM_011513463.1:c.640C>T XP_011511765.1:p.Gln214Ter
XR_924947.1:n.997C>T
NM_000203.5:c.928C>T MANE Select NP_000194.2:p.Gln310Ter
NM_001363576.1:c.532C>T NP_001350505.1:p.Gln178Ter
XM_011513461.2:c.721C>T XP_011511763.1:p.Gln241Ter
XM_017008163.1:c.-33C>T XP_016863652.1:n.-33C>T