Canonical Allele Identifier: CA355962320

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995786T>A (hg19) ; chr4:g.1001998T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001998T>A , CM000666.2:g.1001998T>A	GRCh38
NC_000004.11:g.995786T>A , CM000666.1:g.995786T>A	GRCh37
NC_000004.10:g.985786T>A	NCBI36
NG_008103.1:g.20002T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.809T>A	ENSP00000247933.4:p.Ile270Asn
ENST00000514224.2:c.809T>A MANE Select	ENSP00000425081.2:p.Ile270Asn
ENST00000652070.1:n.865T>A
ENST00000247933.8:c.809T>A	ENSP00000247933.4:p.Ile270Asn
ENST00000502910.5:c.668T>A	ENSP00000422952.1:p.Ile223Asn
ENST00000514192.5:c.626T>A	ENSP00000423685.1:p.Ile209Asn
ENST00000514224.1:c.413T>A	ENSP00000425081.1:p.Ile138Asn
ENST00000514698.5:n.809T>A
NM_000203.4:c.809T>A	NP_000194.2:p.Ile270Asn
NR_110313.1:n.897T>A
XM_006713882.2:c.413T>A	XP_006713945.1:p.Ile138Asn
XM_011513459.1:c.768T>A	XP_011511761.1:p.His256Gln
XM_011513460.1:c.668T>A	XP_011511762.1:p.Ile223Asn
XM_011513461.1:c.602T>A	XP_011511763.1:p.Ile201Asn
XM_011513462.1:c.521T>A	XP_011511764.1:p.Ile174Asn
XM_011513463.1:c.521T>A	XP_011511765.1:p.Ile174Asn
XR_924947.1:n.878T>A
NM_000203.5:c.809T>A MANE Select	NP_000194.2:p.Ile270Asn
NM_001363576.1:c.413T>A	NP_001350505.1:p.Ile138Asn
XM_011513461.2:c.602T>A	XP_011511763.1:p.Ile201Asn
XM_017008163.1:c.-152T>A	XP_016863652.1:n.-152T>A