Canonical Allele Identifier: CA355961907
Community Standard Title: NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)
Gene: IDUA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1001695C>A , CM000666.2:g.1001695C>A GRCh38
NC_000004.11:g.995483C>A , CM000666.1:g.995483C>A GRCh37
NC_000004.10:g.985483C>A NCBI36
NG_008103.1:g.19699C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000203.5:c.606C>A MANE Select NP_000194.2:p.Tyr202Ter
ENST00000514224.2:c.606C>A MANE Select ENSP00000425081.2:p.Tyr202Ter
NM_000203.4:c.606C>A NP_000194.2:p.Tyr202Ter
NM_001363576.1:c.210C>A NP_001350505.1:p.Tyr70Ter
NR_110313.1:n.694C>A
ENST00000247933.8:c.606C>A ENSP00000247933.4:p.Tyr202Ter
ENST00000247933.9:c.606C>A ENSP00000247933.4:p.Tyr202Ter
ENST00000502910.5:c.465C>A ENSP00000422952.1:p.Tyr155Ter
ENST00000504568.5:c.566C>A
ENST00000509948.5:c.399C>A ENSP00000424227.1:p.Tyr133Ter
ENST00000514192.5:c.423C>A ENSP00000423685.1:p.Tyr141Ter
ENST00000514224.1:c.210C>A ENSP00000425081.1:p.Tyr70Ter
ENST00000514698.5:n.506C>A
ENST00000652070.1:n.662C>A
XM_006713882.2:c.210C>A XP_006713945.1:p.Tyr70Ter
XM_011513459.1:c.465C>A XP_011511761.1:p.Tyr155Ter
XM_011513460.1:c.465C>A XP_011511762.1:p.Tyr155Ter
XM_011513461.1:c.399C>A XP_011511763.1:p.Tyr133Ter
XM_011513461.2:c.399C>A XP_011511763.1:p.Tyr133Ter
XM_011513462.1:c.318C>A XP_011511764.1:p.Tyr106Ter
XM_011513463.1:c.318C>A XP_011511765.1:p.Tyr106Ter
XM_017008163.1:c.-355C>A XP_016863652.1:n.-355C>A
XR_924947.1:n.675C>A