Canonical Allele Identifier: CA355965092

Gene: IDUA

Linked Data

• gnomAD v4: 4-1003448-G-T
• MyVariant Identifiers: chr4:g.997236G>T (hg19) ; chr4:g.1003448G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003448G>T , CM000666.2:g.1003448G>T	GRCh38
NC_000004.11:g.997236G>T , CM000666.1:g.997236G>T	GRCh37
NC_000004.10:g.987236G>T	NCBI36
NG_008103.1:g.21452G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1628G>T	ENSP00000247933.4:p.Arg543Leu
ENST00000514224.2:c.1628G>T MANE Select	ENSP00000425081.2:p.Arg543Leu
ENST00000652070.1:n.1684G>T
ENST00000247933.8:c.1628G>T	ENSP00000247933.4:p.Arg543Leu
ENST00000514224.1:c.1232G>T	ENSP00000425081.1:p.Arg411Leu
ENST00000514417.1:n.20G>T
ENST00000514698.5:n.1735G>T
NM_000203.4:c.1628G>T	NP_000194.2:p.Arg543Leu
NR_110313.1:n.1716G>T
XM_006713882.2:c.1232G>T	XP_006713945.1:p.Arg411Leu
XM_011513459.1:c.1694G>T	XP_011511761.1:p.Arg565Leu
XM_011513460.1:c.1487G>T	XP_011511762.1:p.Arg496Leu
XM_011513461.1:c.1421G>T	XP_011511763.1:p.Arg474Leu
XM_011513462.1:c.1340G>T	XP_011511764.1:p.Arg447Leu
XM_011513463.1:c.1340G>T	XP_011511765.1:p.Arg447Leu
XR_924947.1:n.1884G>T
NM_000203.5:c.1628G>T MANE Select	NP_000194.2:p.Arg543Leu
NM_001363576.1:c.1232G>T	NP_001350505.1:p.Arg411Leu
XM_011513461.2:c.1421G>T	XP_011511763.1:p.Arg474Leu
XM_017008163.1:c.668G>T	XP_016863652.1:p.Arg223Leu