Canonical Allele Identifier: CA438057936

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997204G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003416G>C , CM000666.2:g.1003416G>C	GRCh38
NC_000004.11:g.997204G>C , CM000666.1:g.997204G>C	GRCh37
NC_000004.10:g.987204G>C	NCBI36
NG_008103.1:g.21420G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1596G>C	ENSP00000247933.4:p.Leu532=
ENST00000514224.2:c.1596G>C MANE Select	ENSP00000425081.2:p.Leu532=
ENST00000652070.1:n.1652G>C
ENST00000247933.8:c.1596G>C	ENSP00000247933.4:p.Leu532=
ENST00000514224.1:c.1200G>C	ENSP00000425081.1:p.Leu400=
ENST00000514698.5:n.1703G>C
NM_000203.4:c.1596G>C	NP_000194.2:p.Leu532=
NR_110313.1:n.1684G>C
XM_006713882.2:c.1200G>C	XP_006713945.1:p.Leu400=
XM_011513459.1:c.1662G>C	XP_011511761.1:p.Leu554=
XM_011513460.1:c.1455G>C	XP_011511762.1:p.Leu485=
XM_011513461.1:c.1389G>C	XP_011511763.1:p.Leu463=
XM_011513462.1:c.1308G>C	XP_011511764.1:p.Leu436=
XM_011513463.1:c.1308G>C	XP_011511765.1:p.Leu436=
XR_924947.1:n.1852G>C
NM_000203.5:c.1596G>C MANE Select	NP_000194.2:p.Leu532=
NM_001363576.1:c.1200G>C	NP_001350505.1:p.Leu400=
XM_011513461.2:c.1389G>C	XP_011511763.1:p.Leu463=
XM_017008163.1:c.636G>C	XP_016863652.1:p.Leu212=