Canonical Allele Identifier: CA2739858875

Gene: IDUA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001952C>T , CM000666.2:g.1001952C>T	GRCh38
NC_000004.11:g.995740C>T , CM000666.1:g.995740C>T	GRCh37
NC_000004.10:g.985740C>T	NCBI36
NG_008103.1:g.19956C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.793-30C>T	ENSP00000247933.4:n.793-30C>T
ENST00000514224.2:c.793-30C>T MANE Select	ENSP00000425081.2:n.793-30C>T
ENST00000652070.1:n.849-30C>T
ENST00000247933.8:c.793-30C>T	ENSP00000247933.4:n.793-30C>T
ENST00000502910.5:c.652-30C>T	ENSP00000422952.1:n.652-30C>T
ENST00000514192.5:c.610-30C>T	ENSP00000423685.1:n.610-30C>T
ENST00000514224.1:c.397-30C>T	ENSP00000425081.1:n.397-30C>T
ENST00000514698.5:n.763C>T
NM_000203.4:c.793-30C>T	NP_000194.2:n.793-30C>T
NR_110313.1:n.881-30C>T
XM_006713882.2:c.397-30C>T	XP_006713945.1:n.397-30C>T
XM_011513459.1:c.722C>T	XP_011511761.1:p.Pro241Leu
XM_011513460.1:c.652-30C>T	XP_011511762.1:n.652-30C>T
XM_011513461.1:c.586-30C>T	XP_011511763.1:n.586-30C>T
XM_011513462.1:c.505-30C>T	XP_011511764.1:n.505-30C>T
XM_011513463.1:c.505-30C>T	XP_011511765.1:n.505-30C>T
XR_924947.1:n.862-30C>T
NM_000203.5:c.793-30C>T MANE Select	NP_000194.2:n.793-30C>T
NM_001363576.1:c.397-30C>T	NP_001350505.1:n.397-30C>T
XM_011513461.2:c.586-30C>T	XP_011511763.1:n.586-30C>T
XM_017008163.1:c.-168-30C>T	XP_016863652.1:n.-168-30C>T