Canonical Allele Identifier: CA91170824

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003442G>T , CM000666.2:g.1003442G>T	GRCh38
NC_000004.11:g.997230G>T , CM000666.1:g.997230G>T	GRCh37
NC_000004.10:g.987230G>T	NCBI36
NG_008103.1:g.21446G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1622G>T MANE Select	NP_000194.2:p.Cys541Phe
ENST00000514224.2:c.1622G>T MANE Select	ENSP00000425081.2:p.Cys541Phe
NM_000203.4:c.1622G>T	NP_000194.2:p.Cys541Phe
NM_001363576.1:c.1226G>T	NP_001350505.1:p.Cys409Phe
NR_110313.1:n.1710G>T
ENST00000247933.8:c.1622G>T	ENSP00000247933.4:p.Cys541Phe
ENST00000247933.9:c.1622G>T	ENSP00000247933.4:p.Cys541Phe
ENST00000514224.1:c.1226G>T	ENSP00000425081.1:p.Cys409Phe
ENST00000514417.1:n.14G>T
ENST00000514698.5:n.1729G>T
ENST00000652070.1:n.1678G>T
XM_006713882.2:c.1226G>T	XP_006713945.1:p.Cys409Phe
XM_011513459.1:c.1688G>T	XP_011511761.1:p.Cys563Phe
XM_011513460.1:c.1481G>T	XP_011511762.1:p.Cys494Phe
XM_011513461.1:c.1415G>T	XP_011511763.1:p.Cys472Phe
XM_011513461.2:c.1415G>T	XP_011511763.1:p.Cys472Phe
XM_011513462.1:c.1334G>T	XP_011511764.1:p.Cys445Phe
XM_011513463.1:c.1334G>T	XP_011511765.1:p.Cys445Phe
XM_017008163.1:c.662G>T	XP_016863652.1:p.Cys221Phe
XR_924947.1:n.1878G>T