Canonical Allele Identifier: CA355961762

Gene: IDUA

Linked Data

• dbSNP Id: rs1383523877
• gnomAD v2: 4-995318-C-A
• MyVariant Identifiers: chr4:g.995318C>A (hg19) ; chr4:g.1001530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001530C>A , CM000666.2:g.1001530C>A	GRCh38
NC_000004.11:g.995318C>A , CM000666.1:g.995318C>A	GRCh37
NC_000004.10:g.985318C>A	NCBI36
NG_008103.1:g.19534C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.556C>A	ENSP00000247933.4:p.His186Asn
ENST00000514224.2:c.556C>A MANE Select	ENSP00000425081.2:p.His186Asn
ENST00000652070.1:n.612C>A
ENST00000247933.8:c.556C>A	ENSP00000247933.4:p.His186Asn
ENST00000502910.5:c.415C>A	ENSP00000422952.1:p.His139Asn
ENST00000504568.5:c.516C>A
ENST00000509948.5:c.349C>A	ENSP00000424227.1:p.His117Asn
ENST00000514192.5:c.373C>A	ENSP00000423685.1:p.His125Asn
ENST00000514224.1:c.160C>A	ENSP00000425081.1:p.His54Asn
ENST00000514698.5:n.456C>A
NM_000203.4:c.556C>A	NP_000194.2:p.His186Asn
NR_110313.1:n.644C>A
XM_006713882.2:c.160C>A	XP_006713945.1:p.His54Asn
XM_011513459.1:c.415C>A	XP_011511761.1:p.His139Asn
XM_011513460.1:c.415C>A	XP_011511762.1:p.His139Asn
XM_011513461.1:c.349C>A	XP_011511763.1:p.His117Asn
XM_011513462.1:c.268C>A	XP_011511764.1:p.His90Asn
XM_011513463.1:c.268C>A	XP_011511765.1:p.His90Asn
XR_924947.1:n.625C>A
NM_000203.5:c.556C>A MANE Select	NP_000194.2:p.His186Asn
NM_001363576.1:c.160C>A	NP_001350505.1:p.His54Asn
XM_011513461.2:c.349C>A	XP_011511763.1:p.His117Asn
XM_017008163.1:c.-433C>A	XP_016863652.1:n.-433C>A