Canonical Allele Identifier: CA355964788

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.996935G>C (hg19) ; chr4:g.1003147G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003147G>C , CM000666.2:g.1003147G>C	GRCh38
NC_000004.11:g.996935G>C , CM000666.1:g.996935G>C	GRCh37
NC_000004.10:g.986935G>C	NCBI36
NG_008103.1:g.21151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1514G>C	ENSP00000247933.4:p.Arg505Pro
ENST00000514224.2:c.1514G>C MANE Select	ENSP00000425081.2:p.Arg505Pro
ENST00000652070.1:n.1570G>C
ENST00000247933.8:c.1514G>C	ENSP00000247933.4:p.Arg505Pro
ENST00000502829.1:n.316G>C
ENST00000514224.1:c.1118G>C	ENSP00000425081.1:p.Arg373Pro
ENST00000514698.5:n.1621G>C
NM_000203.4:c.1514G>C	NP_000194.2:p.Arg505Pro
NR_110313.1:n.1602G>C
XM_006713882.2:c.1118G>C	XP_006713945.1:p.Arg373Pro
XM_011513459.1:c.1580G>C	XP_011511761.1:p.Arg527Pro
XM_011513460.1:c.1373G>C	XP_011511762.1:p.Arg458Pro
XM_011513461.1:c.1307G>C	XP_011511763.1:p.Arg436Pro
XM_011513462.1:c.1226G>C	XP_011511764.1:p.Arg409Pro
XM_011513463.1:c.1226G>C	XP_011511765.1:p.Arg409Pro
XR_924947.1:n.1583G>C
NM_000203.5:c.1514G>C MANE Select	NP_000194.2:p.Arg505Pro
NM_001363576.1:c.1118G>C	NP_001350505.1:p.Arg373Pro
XM_011513461.2:c.1307G>C	XP_011511763.1:p.Arg436Pro
XM_017008163.1:c.554G>C	XP_016863652.1:p.Arg185Pro