Canonical Allele Identifier: CA2801916

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1000904C>T , CM000666.2:g.1000904C>T	GRCh38
NC_000004.11:g.994692C>T , CM000666.1:g.994692C>T	GRCh37
NC_000004.10:g.984692C>T	NCBI36
NG_008103.1:g.18908C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.408C>T MANE Select	NP_000194.2:p.Ala136=
ENST00000514224.2:c.408C>T MANE Select	ENSP00000425081.2:p.Ala136=
NM_000203.4:c.408C>T	NP_000194.2:p.Ala136=
NM_001363576.1:c.12C>T	NP_001350505.1:p.Ala4=
NR_110313.1:n.496C>T
ENST00000247933.8:c.408C>T	ENSP00000247933.4:p.Ala136=
ENST00000247933.9:c.408C>T	ENSP00000247933.4:p.Ala136=
ENST00000502910.5:c.267C>T	ENSP00000422952.1:p.Ala89=
ENST00000504568.5:c.368C>T
ENST00000506561.5:n.417C>T
ENST00000508168.5:n.286C>T
ENST00000509948.5:c.201C>T	ENSP00000424227.1:p.Ala67=
ENST00000514192.5:c.225C>T	ENSP00000423685.1:p.Ala75=
ENST00000514224.1:c.12C>T	ENSP00000425081.1:p.Ala4=
ENST00000514698.5:n.308C>T
ENST00000652070.1:n.464C>T
XM_006713882.2:c.12C>T	XP_006713945.1:p.Ala4=
XM_011513459.1:c.267C>T	XP_011511761.1:p.Ala89=
XM_011513460.1:c.267C>T	XP_011511762.1:p.Ala89=
XM_011513461.1:c.201C>T	XP_011511763.1:p.Ala67=
XM_011513461.2:c.201C>T	XP_011511763.1:p.Ala67=
XM_011513462.1:c.120C>T	XP_011511764.1:p.Ala40=
XM_011513463.1:c.120C>T	XP_011511765.1:p.Ala40=
XM_017008163.1:c.-1059C>T	XP_016863652.1:n.-1059C>T
XR_924947.1:n.477C>T