Canonical Allele Identifier: CA355965879
Community Standard Title: NM_000203.5(IDUA):c.1829-1G>C
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1004259G>C , CM000666.2:g.1004259G>C GRCh38
NC_000004.11:g.998047G>C , CM000666.1:g.998047G>C GRCh37
NC_000004.10:g.988047G>C NCBI36
NG_008103.1:g.22263G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1829-1G>C MANE Select NP_000194.2:n.1829-1G>C
ENST00000514224.2:c.1829-1G>C MANE Select ENSP00000425081.2:n.1829-1G>C
NM_000203.4:c.1829-1G>C NP_000194.2:n.1829-1G>C
NM_001363576.1:c.1433-1G>C NP_001350505.1:n.1433-1G>C
NR_110313.1:n.1921-1G>C
ENST00000247933.8:c.1829-1G>C ENSP00000247933.4:n.1829-1G>C
ENST00000247933.9:c.1829-1G>C ENSP00000247933.4:n.1829-1G>C
ENST00000514224.1:c.1433-1G>C ENSP00000425081.1:n.1433-1G>C
ENST00000514698.5:n.1940-1G>C
ENST00000652070.1:n.1885-1G>C
XM_006713882.2:c.1433-1G>C XP_006713945.1:n.1433-1G>C
XM_011513459.1:c.1895-1G>C XP_011511761.1:n.1895-1G>C
XM_011513460.1:c.1688-1G>C XP_011511762.1:n.1688-1G>C
XM_011513461.1:c.1622-1G>C XP_011511763.1:n.1622-1G>C
XM_011513461.2:c.1622-1G>C XP_011511763.1:n.1622-1G>C
XM_011513462.1:c.1541-1G>C XP_011511764.1:n.1541-1G>C
XM_011513463.1:c.1541-1G>C XP_011511765.1:n.1541-1G>C
XM_017008163.1:c.869-1G>C XP_016863652.1:n.869-1G>C
XR_924947.1:n.2089-1G>C