Canonical Allele Identifier: CA355965062

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003435-C-A
• MyVariant Identifiers: chr4:g.997223C>A (hg19) ; chr4:g.1003435C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003435C>A , CM000666.2:g.1003435C>A	GRCh38
NC_000004.11:g.997223C>A , CM000666.1:g.997223C>A	GRCh37
NC_000004.10:g.987223C>A	NCBI36
NG_008103.1:g.21439C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1615C>A	ENSP00000247933.4:p.His539Asn
ENST00000514224.2:c.1615C>A MANE Select	ENSP00000425081.2:p.His539Asn
ENST00000652070.1:n.1671C>A
ENST00000247933.8:c.1615C>A	ENSP00000247933.4:p.His539Asn
ENST00000514224.1:c.1219C>A	ENSP00000425081.1:p.His407Asn
ENST00000514417.1:n.7C>A
ENST00000514698.5:n.1722C>A
NM_000203.4:c.1615C>A	NP_000194.2:p.His539Asn
NR_110313.1:n.1703C>A
XM_006713882.2:c.1219C>A	XP_006713945.1:p.His407Asn
XM_011513459.1:c.1681C>A	XP_011511761.1:p.His561Asn
XM_011513460.1:c.1474C>A	XP_011511762.1:p.His492Asn
XM_011513461.1:c.1408C>A	XP_011511763.1:p.His470Asn
XM_011513462.1:c.1327C>A	XP_011511764.1:p.His443Asn
XM_011513463.1:c.1327C>A	XP_011511765.1:p.His443Asn
XR_924947.1:n.1871C>A
NM_000203.5:c.1615C>A MANE Select	NP_000194.2:p.His539Asn
NM_001363576.1:c.1219C>A	NP_001350505.1:p.His407Asn
XM_011513461.2:c.1408C>A	XP_011511763.1:p.His470Asn
XM_017008163.1:c.655C>A	XP_016863652.1:p.His219Asn