Canonical Allele Identifier: CA355963518

Gene: IDUA

Linked Data

• ClinVar Variation Id: 968173
• ClinVar RCV Id: RCV001243248
• dbSNP Id: rs1462850727
• gnomAD v2: 4-996521-T-G
• gnomAD v3: 4-1002733-T-G
• gnomAD v4: 4-1002733-T-G
• MyVariant Identifiers: chr4:g.996521T>G (hg19) ; chr4:g.996521_996524delinsGGAG (hg19) ; chr4:g.1002733T>G (hg38) ; chr4:g.1002733_1002736delinsGGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002733T>G , CM000666.2:g.1002733T>G	GRCh38
NC_000004.11:g.996521T>G , CM000666.1:g.996521T>G	GRCh37
NC_000004.10:g.986521T>G	NCBI36
NG_008103.1:g.20737T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1191T>G	ENSP00000247933.4:p.Asp397Glu
ENST00000514224.2:c.1191T>G MANE Select	ENSP00000425081.2:p.Asp397Glu
ENST00000652070.1:n.1247T>G
ENST00000247933.8:c.1191T>G	ENSP00000247933.4:p.Asp397Glu
ENST00000514224.1:c.795T>G	ENSP00000425081.1:p.Asp265Glu
ENST00000514698.5:n.1298T>G
NM_000203.4:c.1191T>G	NP_000194.2:p.Asp397Glu
NR_110313.1:n.1279T>G
XM_006713882.2:c.795T>G	XP_006713945.1:p.Asp265Glu
XM_011513459.1:c.1257T>G	XP_011511761.1:p.Asp419Glu
XM_011513460.1:c.1050T>G	XP_011511762.1:p.Asp350Glu
XM_011513461.1:c.984T>G	XP_011511763.1:p.Asp328Glu
XM_011513462.1:c.903T>G	XP_011511764.1:p.Asp301Glu
XM_011513463.1:c.903T>G	XP_011511765.1:p.Asp301Glu
XR_924947.1:n.1260T>G
NM_000203.5:c.1191T>G MANE Select	NP_000194.2:p.Asp397Glu
NM_001363576.1:c.795T>G	NP_001350505.1:p.Asp265Glu
XM_011513461.2:c.984T>G	XP_011511763.1:p.Asp328Glu
XM_017008163.1:c.231T>G	XP_016863652.1:p.Asp77Glu