Canonical Allele Identifier: CA438058051

Gene: IDUA

Linked Data

• dbSNP Id: rs1321815503
• gnomAD v2: 4-997384-G-C
• gnomAD v4: 4-1003596-G-C
• MyVariant Identifiers: chr4:g.997384G>C (hg19) ; chr4:g.1003596G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003596G>C , CM000666.2:g.1003596G>C	GRCh38
NC_000004.11:g.997384G>C , CM000666.1:g.997384G>C	GRCh37
NC_000004.10:g.987384G>C	NCBI36
NG_008103.1:g.21600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1698G>C	ENSP00000247933.4:p.Leu566=
ENST00000514224.2:c.1698G>C MANE Select	ENSP00000425081.2:p.Leu566=
ENST00000652070.1:n.1754G>C
ENST00000247933.8:c.1698G>C	ENSP00000247933.4:p.Leu566=
ENST00000514224.1:c.1302G>C	ENSP00000425081.1:p.Leu434=
ENST00000514417.1:n.90G>C
ENST00000514698.5:n.1805G>C
NM_000203.4:c.1698G>C	NP_000194.2:p.Leu566=
NR_110313.1:n.1786G>C
XM_006713882.2:c.1302G>C	XP_006713945.1:p.Leu434=
XM_011513459.1:c.1764G>C	XP_011511761.1:p.Leu588=
XM_011513460.1:c.1557G>C	XP_011511762.1:p.Leu519=
XM_011513461.1:c.1491G>C	XP_011511763.1:p.Leu497=
XM_011513462.1:c.1410G>C	XP_011511764.1:p.Leu470=
XM_011513463.1:c.1410G>C	XP_011511765.1:p.Leu470=
XR_924947.1:n.1954G>C
NM_000203.5:c.1698G>C MANE Select	NP_000194.2:p.Leu566=
NM_001363576.1:c.1302G>C	NP_001350505.1:p.Leu434=
XM_011513461.2:c.1491G>C	XP_011511763.1:p.Leu497=
XM_017008163.1:c.738G>C	XP_016863652.1:p.Leu246=