Canonical Allele Identifier: CA355965210

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003586-A-C
• MyVariant Identifiers: chr4:g.997374A>C (hg19) ; chr4:g.1003586A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003586A>C , CM000666.2:g.1003586A>C	GRCh38
NC_000004.11:g.997374A>C , CM000666.1:g.997374A>C	GRCh37
NC_000004.10:g.987374A>C	NCBI36
NG_008103.1:g.21590A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1688A>C	ENSP00000247933.4:p.Gln563Pro
ENST00000514224.2:c.1688A>C MANE Select	ENSP00000425081.2:p.Gln563Pro
ENST00000652070.1:n.1744A>C
ENST00000247933.8:c.1688A>C	ENSP00000247933.4:p.Gln563Pro
ENST00000514224.1:c.1292A>C	ENSP00000425081.1:p.Gln431Pro
ENST00000514417.1:n.80A>C
ENST00000514698.5:n.1795A>C
NM_000203.4:c.1688A>C	NP_000194.2:p.Gln563Pro
NR_110313.1:n.1776A>C
XM_006713882.2:c.1292A>C	XP_006713945.1:p.Gln431Pro
XM_011513459.1:c.1754A>C	XP_011511761.1:p.Gln585Pro
XM_011513460.1:c.1547A>C	XP_011511762.1:p.Gln516Pro
XM_011513461.1:c.1481A>C	XP_011511763.1:p.Gln494Pro
XM_011513462.1:c.1400A>C	XP_011511764.1:p.Gln467Pro
XM_011513463.1:c.1400A>C	XP_011511765.1:p.Gln467Pro
XR_924947.1:n.1944A>C
NM_000203.5:c.1688A>C MANE Select	NP_000194.2:p.Gln563Pro
NM_001363576.1:c.1292A>C	NP_001350505.1:p.Gln431Pro
XM_011513461.2:c.1481A>C	XP_011511763.1:p.Gln494Pro
XM_017008163.1:c.728A>C	XP_016863652.1:p.Gln243Pro