Canonical Allele Identifier: CA355961758

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995316A>T (hg19) ; chr4:g.1001528A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001528A>T , CM000666.2:g.1001528A>T	GRCh38
NC_000004.11:g.995316A>T , CM000666.1:g.995316A>T	GRCh37
NC_000004.10:g.985316A>T	NCBI36
NG_008103.1:g.19532A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.554A>T	ENSP00000247933.4:p.His185Leu
ENST00000514224.2:c.554A>T MANE Select	ENSP00000425081.2:p.His185Leu
ENST00000652070.1:n.610A>T
ENST00000247933.8:c.554A>T	ENSP00000247933.4:p.His185Leu
ENST00000502910.5:c.413A>T	ENSP00000422952.1:p.His138Leu
ENST00000504568.5:c.514A>T
ENST00000509948.5:c.347A>T	ENSP00000424227.1:p.His116Leu
ENST00000514192.5:c.371A>T	ENSP00000423685.1:p.His124Leu
ENST00000514224.1:c.158A>T	ENSP00000425081.1:p.His53Leu
ENST00000514698.5:n.454A>T
NM_000203.4:c.554A>T	NP_000194.2:p.His185Leu
NR_110313.1:n.642A>T
XM_006713882.2:c.158A>T	XP_006713945.1:p.His53Leu
XM_011513459.1:c.413A>T	XP_011511761.1:p.His138Leu
XM_011513460.1:c.413A>T	XP_011511762.1:p.His138Leu
XM_011513461.1:c.347A>T	XP_011511763.1:p.His116Leu
XM_011513462.1:c.266A>T	XP_011511764.1:p.His89Leu
XM_011513463.1:c.266A>T	XP_011511765.1:p.His89Leu
XR_924947.1:n.623A>T
NM_000203.5:c.554A>T MANE Select	NP_000194.2:p.His185Leu
NM_001363576.1:c.158A>T	NP_001350505.1:p.His53Leu
XM_011513461.2:c.347A>T	XP_011511763.1:p.His116Leu
XM_017008163.1:c.-435A>T	XP_016863652.1:n.-435A>T