Canonical Allele Identifier: CA438057653

Gene: IDUA

Linked Data

• gnomAD v4: 4-1002289-C-T
• MyVariant Identifiers: chr4:g.996077C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002289C>T , CM000666.2:g.1002289C>T	GRCh38
NC_000004.11:g.996077C>T , CM000666.1:g.996077C>T	GRCh37
NC_000004.10:g.986077C>T	NCBI36
NG_008103.1:g.20293C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.993C>T	ENSP00000247933.4:p.Asn331=
ENST00000514224.2:c.993C>T MANE Select	ENSP00000425081.2:p.Asn331=
ENST00000652070.1:n.1049C>T
ENST00000247933.8:c.993C>T	ENSP00000247933.4:p.Asn331=
ENST00000514224.1:c.597C>T	ENSP00000425081.1:p.Asn199=
ENST00000514698.5:n.1100C>T
NM_000203.4:c.993C>T	NP_000194.2:p.Asn331=
NR_110313.1:n.1081C>T
XM_006713882.2:c.597C>T	XP_006713945.1:p.Asn199=
XM_011513459.1:c.1059C>T	XP_011511761.1:p.Asn353=
XM_011513460.1:c.852C>T	XP_011511762.1:p.Asn284=
XM_011513461.1:c.786C>T	XP_011511763.1:p.Asn262=
XM_011513462.1:c.705C>T	XP_011511764.1:p.Asn235=
XM_011513463.1:c.705C>T	XP_011511765.1:p.Asn235=
XR_924947.1:n.1062C>T
NM_000203.5:c.993C>T MANE Select	NP_000194.2:p.Asn331=
NM_001363576.1:c.597C>T	NP_001350505.1:p.Asn199=
XM_011513461.2:c.786C>T	XP_011511763.1:p.Asn262=
XM_017008163.1:c.33C>T	XP_016863652.1:p.Asn11=