Canonical Allele Identifier: CA91170557

Gene: IDUA

Linked Data

• dbSNP Id: rs894614750
• gnomAD v3: 4-1003231-T-A
• gnomAD v4: 4-1003231-T-A
• MyVariant Identifiers: chr4:g.997019T>A (hg19) ; chr4:g.1003231T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003231T>A , CM000666.2:g.1003231T>A	GRCh38
NC_000004.11:g.997019T>A , CM000666.1:g.997019T>A	GRCh37
NC_000004.10:g.987019T>A	NCBI36
NG_008103.1:g.21235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1524+74T>A	ENSP00000247933.4:n.1524+74T>A
ENST00000514224.2:c.1524+74T>A MANE Select	ENSP00000425081.2:n.1524+74T>A
ENST00000652070.1:n.1580+74T>A
ENST00000247933.8:c.1524+74T>A	ENSP00000247933.4:n.1524+74T>A
ENST00000502829.1:n.400T>A
ENST00000514224.1:c.1128+74T>A	ENSP00000425081.1:n.1128+74T>A
ENST00000514698.5:n.1631+74T>A
NM_000203.4:c.1524+74T>A	NP_000194.2:n.1524+74T>A
NR_110313.1:n.1612+74T>A
XM_006713882.2:c.1128+74T>A	XP_006713945.1:n.1128+74T>A
XM_011513459.1:c.1590+74T>A	XP_011511761.1:n.1590+74T>A
XM_011513460.1:c.1383+74T>A	XP_011511762.1:n.1383+74T>A
XM_011513461.1:c.1317+74T>A	XP_011511763.1:n.1317+74T>A
XM_011513462.1:c.1236+74T>A	XP_011511764.1:n.1236+74T>A
XM_011513463.1:c.1236+74T>A	XP_011511765.1:n.1236+74T>A
XR_924947.1:n.1667T>A
NM_000203.5:c.1524+74T>A MANE Select	NP_000194.2:n.1524+74T>A
NM_001363576.1:c.1128+74T>A	NP_001350505.1:n.1128+74T>A
XM_011513461.2:c.1317+74T>A	XP_011511763.1:n.1317+74T>A
XM_017008163.1:c.564+74T>A	XP_016863652.1:n.564+74T>A