Canonical Allele Identifier: CA355962310

Gene: IDUA

Linked Data

• gnomAD v4: 4-1001993-C-A
• MyVariant Identifiers: chr4:g.995781C>A (hg19) ; chr4:g.1001993C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001993C>A , CM000666.2:g.1001993C>A	GRCh38
NC_000004.11:g.995781C>A , CM000666.1:g.995781C>A	GRCh37
NC_000004.10:g.985781C>A	NCBI36
NG_008103.1:g.19997C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.804C>A	ENSP00000247933.4:p.Ser268Arg
ENST00000514224.2:c.804C>A MANE Select	ENSP00000425081.2:p.Ser268Arg
ENST00000652070.1:n.860C>A
ENST00000247933.8:c.804C>A	ENSP00000247933.4:p.Ser268Arg
ENST00000502910.5:c.663C>A	ENSP00000422952.1:p.Ser221Arg
ENST00000514192.5:c.621C>A	ENSP00000423685.1:p.Ser207Arg
ENST00000514224.1:c.408C>A	ENSP00000425081.1:p.Ser136Arg
ENST00000514698.5:n.804C>A
NM_000203.4:c.804C>A	NP_000194.2:p.Ser268Arg
NR_110313.1:n.892C>A
XM_006713882.2:c.408C>A	XP_006713945.1:p.Ser136Arg
XM_011513459.1:c.763C>A	XP_011511761.1:p.Leu255Ile
XM_011513460.1:c.663C>A	XP_011511762.1:p.Ser221Arg
XM_011513461.1:c.597C>A	XP_011511763.1:p.Ser199Arg
XM_011513462.1:c.516C>A	XP_011511764.1:p.Ser172Arg
XM_011513463.1:c.516C>A	XP_011511765.1:p.Ser172Arg
XR_924947.1:n.873C>A
NM_000203.5:c.804C>A MANE Select	NP_000194.2:p.Ser268Arg
NM_001363576.1:c.408C>A	NP_001350505.1:p.Ser136Arg
XM_011513461.2:c.597C>A	XP_011511763.1:p.Ser199Arg
XM_017008163.1:c.-157C>A	XP_016863652.1:n.-157C>A