Canonical Allele Identifier: CA355961760

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995317C>G (hg19) ; chr4:g.1001529C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001529C>G , CM000666.2:g.1001529C>G	GRCh38
NC_000004.11:g.995317C>G , CM000666.1:g.995317C>G	GRCh37
NC_000004.10:g.985317C>G	NCBI36
NG_008103.1:g.19533C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000247933.9:c.555C>G	ENSP00000247933.4:p.His185Gln
ENST00000514224.2:c.555C>G MANE Select	ENSP00000425081.2:p.His185Gln
ENST00000652070.1:n.611C>G
ENST00000247933.8:c.555C>G	ENSP00000247933.4:p.His185Gln
ENST00000502910.5:c.414C>G	ENSP00000422952.1:p.His138Gln
ENST00000504568.5:c.515C>G
ENST00000509948.5:c.348C>G	ENSP00000424227.1:p.His116Gln
ENST00000514192.5:c.372C>G	ENSP00000423685.1:p.His124Gln
ENST00000514224.1:c.159C>G	ENSP00000425081.1:p.His53Gln
ENST00000514698.5:n.455C>G
NM_000203.4:c.555C>G	NP_000194.2:p.His185Gln
NR_110313.1:n.643C>G
XM_006713882.2:c.159C>G	XP_006713945.1:p.His53Gln
XM_011513459.1:c.414C>G	XP_011511761.1:p.His138Gln
XM_011513460.1:c.414C>G	XP_011511762.1:p.His138Gln
XM_011513461.1:c.348C>G	XP_011511763.1:p.His116Gln
XM_011513462.1:c.267C>G	XP_011511764.1:p.His89Gln
XM_011513463.1:c.267C>G	XP_011511765.1:p.His89Gln
XR_924947.1:n.624C>G
NM_000203.5:c.555C>G MANE Select	NP_000194.2:p.His185Gln
NM_001363576.1:c.159C>G	NP_001350505.1:p.His53Gln
XM_011513461.2:c.348C>G	XP_011511763.1:p.His116Gln
XM_017008163.1:c.-434C>G	XP_016863652.1:n.-434C>G