Canonical Allele Identifier: CA355965155

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003552-A-C
• MyVariant Identifiers: chr4:g.997340A>C (hg19) ; chr4:g.1003552A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003552A>C , CM000666.2:g.1003552A>C	GRCh38
NC_000004.11:g.997340A>C , CM000666.1:g.997340A>C	GRCh37
NC_000004.10:g.987340A>C	NCBI36
NG_008103.1:g.21556A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1654A>C	ENSP00000247933.4:p.Thr552Pro
ENST00000514224.2:c.1654A>C MANE Select	ENSP00000425081.2:p.Thr552Pro
ENST00000652070.1:n.1710A>C
ENST00000247933.8:c.1654A>C	ENSP00000247933.4:p.Thr552Pro
ENST00000514224.1:c.1258A>C	ENSP00000425081.1:p.Thr420Pro
ENST00000514417.1:n.46A>C
ENST00000514698.5:n.1761A>C
NM_000203.4:c.1654A>C	NP_000194.2:p.Thr552Pro
NR_110313.1:n.1742A>C
XM_006713882.2:c.1258A>C	XP_006713945.1:p.Thr420Pro
XM_011513459.1:c.1720A>C	XP_011511761.1:p.Thr574Pro
XM_011513460.1:c.1513A>C	XP_011511762.1:p.Thr505Pro
XM_011513461.1:c.1447A>C	XP_011511763.1:p.Thr483Pro
XM_011513462.1:c.1366A>C	XP_011511764.1:p.Thr456Pro
XM_011513463.1:c.1366A>C	XP_011511765.1:p.Thr456Pro
XR_924947.1:n.1910A>C
NM_000203.5:c.1654A>C MANE Select	NP_000194.2:p.Thr552Pro
NM_001363576.1:c.1258A>C	NP_001350505.1:p.Thr420Pro
XM_011513461.2:c.1447A>C	XP_011511763.1:p.Thr483Pro
XM_017008163.1:c.694A>C	XP_016863652.1:p.Thr232Pro