Canonical Allele Identifier: CA145892
Community Standard Title: NM_000203.5(IDUA):c.942G>C (p.Ala314=)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1002131G>C , CM000666.2:g.1002131G>C GRCh38
NC_000004.11:g.995919G>C , CM000666.1:g.995919G>C GRCh37
NC_000004.10:g.985919G>C NCBI36
NG_008103.1:g.20135G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.942G>C MANE Select NP_000194.2:p.Ala314=
ENST00000514224.2:c.942G>C MANE Select ENSP00000425081.2:p.Ala314=
NM_000203.4:c.942G>C NP_000194.2:p.Ala314=
NM_001363576.1:c.546G>C NP_001350505.1:p.Ala182=
NR_110313.1:n.1030G>C
ENST00000247933.8:c.942G>C ENSP00000247933.4:p.Ala314=
ENST00000247933.9:c.942G>C ENSP00000247933.4:p.Ala314=
ENST00000514224.1:c.546G>C ENSP00000425081.1:p.Ala182=
ENST00000514698.5:n.942G>C
ENST00000652070.1:n.998G>C
XM_006713882.2:c.546G>C XP_006713945.1:p.Ala182=
XM_011513459.1:c.901G>C XP_011511761.1:p.Gly301Arg
XM_011513460.1:c.801G>C XP_011511762.1:p.Ala267=
XM_011513461.1:c.735G>C XP_011511763.1:p.Ala245=
XM_011513461.2:c.735G>C XP_011511763.1:p.Ala245=
XM_011513462.1:c.654G>C XP_011511764.1:p.Ala218=
XM_011513463.1:c.654G>C XP_011511765.1:p.Ala218=
XM_017008163.1:c.-19G>C XP_016863652.1:n.-19G>C
XR_924947.1:n.1011G>C