Canonical Allele Identifier: CA355962789

Gene: IDUA

Linked Data

• ClinVar Variation Id: 2115341
• ClinVar RCV Id: RCV003046407 ; RCV003491199
• gnomAD v4: 4-1002141-T-C
• MyVariant Identifiers: chr4:g.995929T>C (hg19) ; chr4:g.1002141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1002141T>C , CM000666.2:g.1002141T>C	GRCh38
NC_000004.11:g.995929T>C , CM000666.1:g.995929T>C	GRCh37
NC_000004.10:g.985929T>C	NCBI36
NG_008103.1:g.20145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.952T>C	ENSP00000247933.4:p.Tyr318His
ENST00000514224.2:c.952T>C MANE Select	ENSP00000425081.2:p.Tyr318His
ENST00000652070.1:n.1008T>C
ENST00000247933.8:c.952T>C	ENSP00000247933.4:p.Tyr318His
ENST00000514224.1:c.556T>C	ENSP00000425081.1:p.Tyr186His
ENST00000514698.5:n.952T>C
NM_000203.4:c.952T>C	NP_000194.2:p.Tyr318His
NR_110313.1:n.1040T>C
XM_006713882.2:c.556T>C	XP_006713945.1:p.Tyr186His
XM_011513459.1:c.911T>C	XP_011511761.1:p.Leu304Pro
XM_011513460.1:c.811T>C	XP_011511762.1:p.Tyr271His
XM_011513461.1:c.745T>C	XP_011511763.1:p.Tyr249His
XM_011513462.1:c.664T>C	XP_011511764.1:p.Tyr222His
XM_011513463.1:c.664T>C	XP_011511765.1:p.Tyr222His
XR_924947.1:n.1021T>C
NM_000203.5:c.952T>C MANE Select	NP_000194.2:p.Tyr318His
NM_001363576.1:c.556T>C	NP_001350505.1:p.Tyr186His
XM_011513461.2:c.745T>C	XP_011511763.1:p.Tyr249His
XM_017008163.1:c.-9T>C	XP_016863652.1:n.-9T>C