Canonical Allele Identifier: CA355963438

Gene: IDUA

Linked Data

• ClinVar Variation Id: 556024
• ClinVar RCV Id: RCV000671961 ; RCV002532119 ; RCV003133498
• dbSNP Id: rs1553917309
• gnomAD v3: 4-1002450-C-G
• gnomAD v4: 4-1002450-C-G
• MyVariant Identifiers: chr4:g.996238C>G (hg19) ; chr4:g.1002450C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002450C>G , CM000666.2:g.1002450C>G	GRCh38
NC_000004.11:g.996238C>G , CM000666.1:g.996238C>G	GRCh37
NC_000004.10:g.986238C>G	NCBI36
NG_008103.1:g.20454C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1154C>G	ENSP00000247933.4:p.Pro385Arg
ENST00000514224.2:c.1154C>G MANE Select	ENSP00000425081.2:p.Pro385Arg
ENST00000652070.1:n.1210C>G
ENST00000247933.8:c.1154C>G	ENSP00000247933.4:p.Pro385Arg
ENST00000514224.1:c.758C>G	ENSP00000425081.1:p.Pro253Arg
ENST00000514698.5:n.1261C>G
NM_000203.4:c.1154C>G	NP_000194.2:p.Pro385Arg
NR_110313.1:n.1242C>G
XM_006713882.2:c.758C>G	XP_006713945.1:p.Pro253Arg
XM_011513459.1:c.1220C>G	XP_011511761.1:p.Pro407Arg
XM_011513460.1:c.1013C>G	XP_011511762.1:p.Pro338Arg
XM_011513461.1:c.947C>G	XP_011511763.1:p.Pro316Arg
XM_011513462.1:c.866C>G	XP_011511764.1:p.Pro289Arg
XM_011513463.1:c.866C>G	XP_011511765.1:p.Pro289Arg
XR_924947.1:n.1223C>G
NM_000203.5:c.1154C>G MANE Select	NP_000194.2:p.Pro385Arg
NM_001363576.1:c.758C>G	NP_001350505.1:p.Pro253Arg
XM_011513461.2:c.947C>G	XP_011511763.1:p.Pro316Arg
XM_017008163.1:c.194C>G	XP_016863652.1:p.Pro65Arg