Canonical Allele Identifier: CA355962982

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2432767
• ClinVar RCV Id: RCV003133653
• dbSNP Id: rs1318917960
• gnomAD v2: 4-996077-C-G
• gnomAD v3: 4-1002289-C-G
• gnomAD v4: 4-1002289-C-G
• MyVariant Identifiers: chr4:g.996077C>G (hg19) ; chr4:g.1002289C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.993C>G	ENSP00000247933.4:p.Asn331Lys
ENST00000514224.2:c.993C>G MANE Select	ENSP00000425081.2:p.Asn331Lys
ENST00000652070.1:n.1049C>G
ENST00000247933.8:c.993C>G	ENSP00000247933.4:p.Asn331Lys
ENST00000514224.1:c.597C>G	ENSP00000425081.1:p.Asn199Lys
ENST00000514698.5:n.1100C>G
NM_000203.4:c.993C>G	NP_000194.2:p.Asn331Lys
NR_110313.1:n.1081C>G
XM_006713882.2:c.597C>G	XP_006713945.1:p.Asn199Lys
XM_011513459.1:c.1059C>G	XP_011511761.1:p.Asn353Lys
XM_011513460.1:c.852C>G	XP_011511762.1:p.Asn284Lys
XM_011513461.1:c.786C>G	XP_011511763.1:p.Asn262Lys
XM_011513462.1:c.705C>G	XP_011511764.1:p.Asn235Lys
XM_011513463.1:c.705C>G	XP_011511765.1:p.Asn235Lys
XR_924947.1:n.1062C>G
NM_000203.5:c.993C>G MANE Select	NP_000194.2:p.Asn331Lys
NM_001363576.1:c.597C>G	NP_001350505.1:p.Asn199Lys
XM_011513461.2:c.786C>G	XP_011511763.1:p.Asn262Lys
XM_017008163.1:c.33C>G	XP_016863652.1:p.Asn11Lys