Canonical Allele Identifier: CA234128

Gene: IDUA

Linked Data

• ClinVar Variation Id: 167190
• ClinVar RCV Id: RCV000180108 ; RCV000208605 ; RCV000790804
• dbSNP Id: rs199801029
• ExAC: 4:996063 G / C
• gnomAD v2: 4-996063-G-C
• gnomAD v3: 4-1002275-G-C
• gnomAD v4: 4-1002275-G-C
• MyVariant Identifiers: chr4:g.996063G>C (hg19) ; chr4:g.1002275G>C (hg38)
• PubMed: PMID:8680403 ; PMID:9427149 ; PMID:12559846 ; PMID:15300847 ; PMID:20301341 ; PMID:21394825 ; PMID:23786846 ; PMID:27896125

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002275G>C , CM000666.2:g.1002275G>C	GRCh38
NC_000004.11:g.996063G>C , CM000666.1:g.996063G>C	GRCh37
NC_000004.10:g.986063G>C	NCBI36
NG_008103.1:g.20279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.979G>C	ENSP00000247933.4:p.Ala327Pro
ENST00000514224.2:c.979G>C MANE Select	ENSP00000425081.2:p.Ala327Pro
ENST00000652070.1:n.1035G>C
ENST00000247933.8:c.979G>C	ENSP00000247933.4:p.Ala327Pro
ENST00000514224.1:c.583G>C	ENSP00000425081.1:p.Ala195Pro
ENST00000514698.5:n.1086G>C
NM_000203.4:c.979G>C	NP_000194.2:p.Ala327Pro
NR_110313.1:n.1067G>C
XM_006713882.2:c.583G>C	XP_006713945.1:p.Ala195Pro
XM_011513459.1:c.1045G>C	XP_011511761.1:p.Ala349Pro
XM_011513460.1:c.838G>C	XP_011511762.1:p.Ala280Pro
XM_011513461.1:c.772G>C	XP_011511763.1:p.Ala258Pro
XM_011513462.1:c.691G>C	XP_011511764.1:p.Ala231Pro
XM_011513463.1:c.691G>C	XP_011511765.1:p.Ala231Pro
XR_924947.1:n.1048G>C
NM_000203.5:c.979G>C MANE Select	NP_000194.2:p.Ala327Pro
NM_001363576.1:c.583G>C	NP_001350505.1:p.Ala195Pro
XM_011513461.2:c.772G>C	XP_011511763.1:p.Ala258Pro
XM_017008163.1:c.19G>C	XP_016863652.1:p.Ala7Pro