Canonical Allele Identifier: CA2669482723

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003225-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003225G>T , CM000666.2:g.1003225G>T	GRCh38
NC_000004.11:g.997013G>T , CM000666.1:g.997013G>T	GRCh37
NC_000004.10:g.987013G>T	NCBI36
NG_008103.1:g.21229G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.1524+68G>T	ENSP00000247933.4:n.1524+68G>T
ENST00000514224.2:c.1524+68G>T MANE Select	ENSP00000425081.2:n.1524+68G>T
ENST00000652070.1:n.1580+68G>T
ENST00000247933.8:c.1524+68G>T	ENSP00000247933.4:n.1524+68G>T
ENST00000502829.1:n.394G>T
ENST00000514224.1:c.1128+68G>T	ENSP00000425081.1:n.1128+68G>T
ENST00000514698.5:n.1631+68G>T
NM_000203.4:c.1524+68G>T	NP_000194.2:n.1524+68G>T
NR_110313.1:n.1612+68G>T
XM_006713882.2:c.1128+68G>T	XP_006713945.1:n.1128+68G>T
XM_011513459.1:c.1590+68G>T	XP_011511761.1:n.1590+68G>T
XM_011513460.1:c.1383+68G>T	XP_011511762.1:n.1383+68G>T
XM_011513461.1:c.1317+68G>T	XP_011511763.1:n.1317+68G>T
XM_011513462.1:c.1236+68G>T	XP_011511764.1:n.1236+68G>T
XM_011513463.1:c.1236+68G>T	XP_011511765.1:n.1236+68G>T
XR_924947.1:n.1661G>T
NM_000203.5:c.1524+68G>T MANE Select	NP_000194.2:n.1524+68G>T
NM_001363576.1:c.1128+68G>T	NP_001350505.1:n.1128+68G>T
XM_011513461.2:c.1317+68G>T	XP_011511763.1:n.1317+68G>T
XM_017008163.1:c.564+68G>T	XP_016863652.1:n.564+68G>T