Canonical Allele Identifier: CA355965213

Gene: IDUA

Linked Data

• dbSNP Id: rs1577544315
• gnomAD v4: 4-1003587-G-C
• MyVariant Identifiers: chr4:g.997375G>C (hg19) ; chr4:g.1003587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003587G>C , CM000666.2:g.1003587G>C	GRCh38
NC_000004.11:g.997375G>C , CM000666.1:g.997375G>C	GRCh37
NC_000004.10:g.987375G>C	NCBI36
NG_008103.1:g.21591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1689G>C	ENSP00000247933.4:p.Gln563His
ENST00000514224.2:c.1689G>C MANE Select	ENSP00000425081.2:p.Gln563His
ENST00000652070.1:n.1745G>C
ENST00000247933.8:c.1689G>C	ENSP00000247933.4:p.Gln563His
ENST00000514224.1:c.1293G>C	ENSP00000425081.1:p.Gln431His
ENST00000514417.1:n.81G>C
ENST00000514698.5:n.1796G>C
NM_000203.4:c.1689G>C	NP_000194.2:p.Gln563His
NR_110313.1:n.1777G>C
XM_006713882.2:c.1293G>C	XP_006713945.1:p.Gln431His
XM_011513459.1:c.1755G>C	XP_011511761.1:p.Gln585His
XM_011513460.1:c.1548G>C	XP_011511762.1:p.Gln516His
XM_011513461.1:c.1482G>C	XP_011511763.1:p.Gln494His
XM_011513462.1:c.1401G>C	XP_011511764.1:p.Gln467His
XM_011513463.1:c.1401G>C	XP_011511765.1:p.Gln467His
XR_924947.1:n.1945G>C
NM_000203.5:c.1689G>C MANE Select	NP_000194.2:p.Gln563His
NM_001363576.1:c.1293G>C	NP_001350505.1:p.Gln431His
XM_011513461.2:c.1482G>C	XP_011511763.1:p.Gln494His
XM_017008163.1:c.729G>C	XP_016863652.1:p.Gln243His