Canonical Allele Identifier: CA2802392
Community Standard Title: NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter)
Gene: IDUA HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1004027C>G , CM000666.2:g.1004027C>G GRCh38
NC_000004.11:g.997815C>G , CM000666.1:g.997815C>G GRCh37
NC_000004.10:g.987815C>G NCBI36
NG_008103.1:g.22031C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.1743C>G MANE Select NP_000194.2:p.Tyr581Ter
ENST00000514224.2:c.1743C>G MANE Select ENSP00000425081.2:p.Tyr581Ter
NM_000203.4:c.1743C>G NP_000194.2:p.Tyr581Ter
NM_001363576.1:c.1347C>G NP_001350505.1:p.Tyr449Ter
NR_110313.1:n.1835C>G
ENST00000247933.8:c.1743C>G ENSP00000247933.4:p.Tyr581Ter
ENST00000247933.9:c.1743C>G ENSP00000247933.4:p.Tyr581Ter
ENST00000514224.1:c.1347C>G ENSP00000425081.1:p.Tyr449Ter
ENST00000514698.5:n.1854C>G
ENST00000652070.1:n.1799C>G
XM_006713882.2:c.1347C>G XP_006713945.1:p.Tyr449Ter
XM_011513459.1:c.1809C>G XP_011511761.1:p.Tyr603Ter
XM_011513460.1:c.1602C>G XP_011511762.1:p.Tyr534Ter
XM_011513461.1:c.1536C>G XP_011511763.1:p.Tyr512Ter
XM_011513461.2:c.1536C>G XP_011511763.1:p.Tyr512Ter
XM_011513462.1:c.1455C>G XP_011511764.1:p.Tyr485Ter
XM_011513463.1:c.1455C>G XP_011511765.1:p.Tyr485Ter
XM_017008163.1:c.783C>G XP_016863652.1:p.Tyr261Ter
XR_924947.1:n.2003C>G
Search 100 bp 5'
Search 100 bp 3'