Canonical Allele Identifier: CA355963148

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002341G>C , CM000666.2:g.1002341G>C	GRCh38
NC_000004.11:g.996129G>C , CM000666.1:g.996129G>C	GRCh37
NC_000004.10:g.986129G>C	NCBI36
NG_008103.1:g.20345G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1045G>C	ENSP00000247933.4:p.Asp349His
ENST00000514224.2:c.1045G>C MANE Select	ENSP00000425081.2:p.Asp349His
ENST00000652070.1:n.1101G>C
ENST00000247933.8:c.1045G>C	ENSP00000247933.4:p.Asp349His
ENST00000514224.1:c.649G>C	ENSP00000425081.1:p.Asp217His
ENST00000514698.5:n.1152G>C
NM_000203.4:c.1045G>C	NP_000194.2:p.Asp349His
NR_110313.1:n.1133G>C
XM_006713882.2:c.649G>C	XP_006713945.1:p.Asp217His
XM_011513459.1:c.1111G>C	XP_011511761.1:p.Asp371His
XM_011513460.1:c.904G>C	XP_011511762.1:p.Asp302His
XM_011513461.1:c.838G>C	XP_011511763.1:p.Asp280His
XM_011513462.1:c.757G>C	XP_011511764.1:p.Asp253His
XM_011513463.1:c.757G>C	XP_011511765.1:p.Asp253His
XR_924947.1:n.1114G>C
NM_000203.5:c.1045G>C MANE Select	NP_000194.2:p.Asp349His
NM_001363576.1:c.649G>C	NP_001350505.1:p.Asp217His
XM_011513461.2:c.838G>C	XP_011511763.1:p.Asp280His
XM_017008163.1:c.85G>C	XP_016863652.1:p.Asp29His