Canonical Allele Identifier: CA91170630

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003349C>T , CM000666.2:g.1003349C>T	GRCh38
NC_000004.11:g.997137C>T , CM000666.1:g.997137C>T	GRCh37
NC_000004.10:g.987137C>T	NCBI36
NG_008103.1:g.21353C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000203.5:c.1529C>T MANE Select	NP_000194.2:p.Pro510Leu
ENST00000514224.2:c.1529C>T MANE Select	ENSP00000425081.2:p.Pro510Leu
NM_000203.4:c.1529C>T	NP_000194.2:p.Pro510Leu
NM_001363576.1:c.1133C>T	NP_001350505.1:p.Pro378Leu
NR_110313.1:n.1617C>T
ENST00000247933.8:c.1529C>T	ENSP00000247933.4:p.Pro510Leu
ENST00000247933.9:c.1529C>T	ENSP00000247933.4:p.Pro510Leu
ENST00000502829.1:n.518C>T
ENST00000514224.1:c.1133C>T	ENSP00000425081.1:p.Pro378Leu
ENST00000514698.5:n.1636C>T
ENST00000652070.1:n.1585C>T
XM_006713882.2:c.1133C>T	XP_006713945.1:p.Pro378Leu
XM_011513459.1:c.1595C>T	XP_011511761.1:p.Pro532Leu
XM_011513460.1:c.1388C>T	XP_011511762.1:p.Pro463Leu
XM_011513461.1:c.1322C>T	XP_011511763.1:p.Pro441Leu
XM_011513461.2:c.1322C>T	XP_011511763.1:p.Pro441Leu
XM_011513462.1:c.1241C>T	XP_011511764.1:p.Pro414Leu
XM_011513463.1:c.1241C>T	XP_011511765.1:p.Pro414Leu
XM_017008163.1:c.569C>T	XP_016863652.1:p.Pro190Leu
XR_924947.1:n.1785C>T