Canonical Allele Identifier: CA355961951

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.995502C>G (hg19) ; chr4:g.1001714C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1001714C>G , CM000666.2:g.1001714C>G	GRCh38
NC_000004.11:g.995502C>G , CM000666.1:g.995502C>G	GRCh37
NC_000004.10:g.985502C>G	NCBI36
NG_008103.1:g.19718C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.625C>G	ENSP00000247933.4:p.Leu209Val
ENST00000514224.2:c.625C>G MANE Select	ENSP00000425081.2:p.Leu209Val
ENST00000652070.1:n.681C>G
ENST00000247933.8:c.625C>G	ENSP00000247933.4:p.Leu209Val
ENST00000502910.5:c.484C>G	ENSP00000422952.1:p.Leu162Val
ENST00000504568.5:c.585C>G
ENST00000509948.5:c.418C>G	ENSP00000424227.1:p.Leu140Val
ENST00000514192.5:c.442C>G	ENSP00000423685.1:p.Leu148Val
ENST00000514224.1:c.229C>G	ENSP00000425081.1:p.Leu77Val
ENST00000514698.5:n.525C>G
NM_000203.4:c.625C>G	NP_000194.2:p.Leu209Val
NR_110313.1:n.713C>G
XM_006713882.2:c.229C>G	XP_006713945.1:p.Leu77Val
XM_011513459.1:c.484C>G	XP_011511761.1:p.Leu162Val
XM_011513460.1:c.484C>G	XP_011511762.1:p.Leu162Val
XM_011513461.1:c.418C>G	XP_011511763.1:p.Leu140Val
XM_011513462.1:c.337C>G	XP_011511764.1:p.Leu113Val
XM_011513463.1:c.337C>G	XP_011511765.1:p.Leu113Val
XR_924947.1:n.694C>G
NM_000203.5:c.625C>G MANE Select	NP_000194.2:p.Leu209Val
NM_001363576.1:c.229C>G	NP_001350505.1:p.Leu77Val
XM_011513461.2:c.418C>G	XP_011511763.1:p.Leu140Val
XM_017008163.1:c.-336C>G	XP_016863652.1:n.-336C>G