Canonical Allele Identifier: CA355961891

Gene: IDUA

Linked Data

• dbSNP Id: rs1715085291
• gnomAD v4: 4-1001690-T-A
• MyVariant Identifiers: chr4:g.995478T>A (hg19) ; chr4:g.1001690T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001690T>A , CM000666.2:g.1001690T>A	GRCh38
NC_000004.11:g.995478T>A , CM000666.1:g.995478T>A	GRCh37
NC_000004.10:g.985478T>A	NCBI36
NG_008103.1:g.19694T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.601T>A	ENSP00000247933.4:p.Tyr201Asn
ENST00000514224.2:c.601T>A MANE Select	ENSP00000425081.2:p.Tyr201Asn
ENST00000652070.1:n.657T>A
ENST00000247933.8:c.601T>A	ENSP00000247933.4:p.Tyr201Asn
ENST00000502910.5:c.460T>A	ENSP00000422952.1:p.Tyr154Asn
ENST00000504568.5:c.561T>A
ENST00000509948.5:c.394T>A	ENSP00000424227.1:p.Tyr132Asn
ENST00000514192.5:c.418T>A	ENSP00000423685.1:p.Tyr140Asn
ENST00000514224.1:c.205T>A	ENSP00000425081.1:p.Tyr69Asn
ENST00000514698.5:n.501T>A
NM_000203.4:c.601T>A	NP_000194.2:p.Tyr201Asn
NR_110313.1:n.689T>A
XM_006713882.2:c.205T>A	XP_006713945.1:p.Tyr69Asn
XM_011513459.1:c.460T>A	XP_011511761.1:p.Tyr154Asn
XM_011513460.1:c.460T>A	XP_011511762.1:p.Tyr154Asn
XM_011513461.1:c.394T>A	XP_011511763.1:p.Tyr132Asn
XM_011513462.1:c.313T>A	XP_011511764.1:p.Tyr105Asn
XM_011513463.1:c.313T>A	XP_011511765.1:p.Tyr105Asn
XR_924947.1:n.670T>A
NM_000203.5:c.601T>A MANE Select	NP_000194.2:p.Tyr201Asn
NM_001363576.1:c.205T>A	NP_001350505.1:p.Tyr69Asn
XM_011513461.2:c.394T>A	XP_011511763.1:p.Tyr132Asn
XM_017008163.1:c.-360T>A	XP_016863652.1:n.-360T>A