Canonical Allele Identifier: CA355961947

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2189408
• ClinVar RCV Id: RCV002607336
• gnomAD v4: 4-1001712-G-C
• MyVariant Identifiers: chr4:g.995500G>C (hg19) ; chr4:g.1001712G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001712G>C , CM000666.2:g.1001712G>C	GRCh38
NC_000004.11:g.995500G>C , CM000666.1:g.995500G>C	GRCh37
NC_000004.10:g.985500G>C	NCBI36
NG_008103.1:g.19716G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.623G>C	ENSP00000247933.4:p.Gly208Ala
ENST00000514224.2:c.623G>C MANE Select	ENSP00000425081.2:p.Gly208Ala
ENST00000652070.1:n.679G>C
ENST00000247933.8:c.623G>C	ENSP00000247933.4:p.Gly208Ala
ENST00000502910.5:c.482G>C	ENSP00000422952.1:p.Gly161Ala
ENST00000504568.5:c.583G>C
ENST00000509948.5:c.416G>C	ENSP00000424227.1:p.Gly139Ala
ENST00000514192.5:c.440G>C	ENSP00000423685.1:p.Gly147Ala
ENST00000514224.1:c.227G>C	ENSP00000425081.1:p.Gly76Ala
ENST00000514698.5:n.523G>C
NM_000203.4:c.623G>C	NP_000194.2:p.Gly208Ala
NR_110313.1:n.711G>C
XM_006713882.2:c.227G>C	XP_006713945.1:p.Gly76Ala
XM_011513459.1:c.482G>C	XP_011511761.1:p.Gly161Ala
XM_011513460.1:c.482G>C	XP_011511762.1:p.Gly161Ala
XM_011513461.1:c.416G>C	XP_011511763.1:p.Gly139Ala
XM_011513462.1:c.335G>C	XP_011511764.1:p.Gly112Ala
XM_011513463.1:c.335G>C	XP_011511765.1:p.Gly112Ala
XR_924947.1:n.692G>C
NM_000203.5:c.623G>C MANE Select	NP_000194.2:p.Gly208Ala
NM_001363576.1:c.227G>C	NP_001350505.1:p.Gly76Ala
XM_011513461.2:c.416G>C	XP_011511763.1:p.Gly139Ala
XM_017008163.1:c.-338G>C	XP_016863652.1:n.-338G>C